Canonical Allele Identifier: CA896165680

Gene: VHL

Linked Data

• dbSNP Id: rs1471706121
• gnomAD v3: 3-10149707-AGTT-A
• gnomAD v4: 3-10149707-AGTT-A
• MyVariant Identifiers: chr3:g.10191392_10191394del (hg19) ; chr3:g.10149708_10149710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149712_10149714del , CM000665.2:g.10149712_10149714del	GRCh38
NC_000003.11:g.10191396_10191398del , CM000665.1:g.10191396_10191398del	GRCh37
NC_000003.10:g.10166396_10166398del	NCBI36
NG_008212.3:g.13078_13080del , LRG_322:g.13078_13080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-75_*141-73del	ENSP00000512434.1:n.*141-75_*141-73del
ENST00000696143.1:c.600-75_600-73del	ENSP00000512435.1:n.600-75_600-73del
ENST00000696153.1:c.575-75_575-73del	ENSP00000512444.1:n.575-75_575-73del
ENST00000256474.3:c.464-75_464-73del MANE Select	ENSP00000256474.3:n.464-75_464-73del
ENST00000256474.2:c.464-75_464-73del	ENSP00000256474.2:n.464-75_464-73del
ENST00000345392.2:c.341-75_341-73del	ENSP00000344757.2:n.341-75_341-73del
ENST00000477538.1:n.600-75_600-73del
NM_000551.3:c.464-75_464-73del , LRG_322t1:c.464-75_464-73del	NP_000542.1:n.464-75_464-73del
NM_198156.2:c.341-75_341-73del	NP_937799.1:n.341-75_341-73del
NM_001354723.1:c.*18-75_*18-73del	NP_001341652.1:n.*18-75_*18-73del
NM_000551.4:c.464-75_464-73del MANE Select	NP_000542.1:n.464-75_464-73del
NM_001354723.2:c.*18-75_*18-73del	NP_001341652.1:n.*18-75_*18-73del
NM_198156.3:c.341-75_341-73del	NP_937799.1:n.341-75_341-73del