Canonical Allele Identifier: CA70055089

Gene: VHL

Linked Data

• dbSNP Id: rs758226928
• gnomAD v2: 3-10194943-CAGAG-C
• gnomAD v3: 3-10153259-CAGAG-C
• gnomAD v4: 3-10153259-CAGAG-C
• MyVariant Identifiers: chr3:g.10194944_10194947del (hg19) ; chr3:g.10153260_10153263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153260_10153263del , CM000665.2:g.10153260_10153263del	GRCh38
NC_000003.11:g.10194944_10194947del , CM000665.1:g.10194944_10194947del	GRCh37
NC_000003.10:g.10169944_10169947del	NCBI36
NG_008212.3:g.16626_16629del , LRG_322:g.16626_16629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3295_*3298del	ENSP00000512444.1:n.*3295_*3298del
ENST00000256474.3:c.*3295_*3298del MANE Select	ENSP00000256474.3:n.*3295_*3298del
NM_000551.3:c.*3295_*3298del , LRG_322t1:c.*3295_*3298del	NP_000542.1:n.*3295_*3298del
NM_198156.2:c.*3295_*3298del	NP_937799.1:n.*3295_*3298del
NM_001354723.1:c.*3491_*3494del	NP_001341652.1:n.*3491_*3494del
NM_000551.4:c.*3295_*3298del MANE Select	NP_000542.1:n.*3295_*3298del
NM_001354723.2:c.*3491_*3494del	NP_001341652.1:n.*3491_*3494del
NM_198156.3:c.*3295_*3298del	NP_937799.1:n.*3295_*3298del