Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1044994373

Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696097990

gnomAD v3: 3-10141540-AGAGT-A

gnomAD v4: 3-10141540-AGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141544_10141547del , CM000665.2:g.10141544_10141547del	GRCh38
NC_000003.11:g.10183228_10183231del , CM000665.1:g.10183228_10183231del	GRCh37
NC_000003.10:g.10158228_10158231del	NCBI36
NG_008212.3:g.4910_4913del , LRG_322:g.4910_4913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-304_-301del	ENSP00000256474.2:n.-304_-301del

Search 100 bp 5'

Search 100 bp 3'