m.11048T>-
Resolving variant against ClinVar, gnomAD and Ensembl…
Resolving variant against ClinVar, gnomAD and Ensembl…
Ensembl VEP is currently experiencing issues
The Ensembl Variant Effect Predictor service is temporarily unavailable. Searches may be slower than usual and some data (variant consequence, protein impact, gnomAD frequencies) may be incomplete. ClinVar and literature data are unaffected.
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No data found for this notation. Check that the gene name and variant position are correct.
No data found for this notation. Check that the gene name and variant position are correct.
HGVS notation error
could not parse genomic HGVS NC_012920:g.11048T>-: Invalid HGVS genomic allele "11048T>-"
Check that the position is within the transcript coding region, the reference allele matches GRCh38, and the notation follows standard HGVS (e.g. NM_000059.4:c.5946delT).
vep: VEP annotation not found — variant may be outside CDS, intronic, or use rsID instead