Canonical Allele Identifier: CA1044999510

Gene: VHL

Linked Data

• dbSNP Id: rs1696351547
• gnomAD v3: 3-10149678-CT-C
• gnomAD v4: 3-10149678-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149679del , CM000665.2:g.10149679del	GRCh38
NC_000003.11:g.10191363del , CM000665.1:g.10191363del	GRCh37
NC_000003.10:g.10166363del	NCBI36
NG_008212.3:g.13045del , LRG_322:g.13045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-108del	ENSP00000512434.1:n.*141-108del
ENST00000696143.1:c.600-108del	ENSP00000512435.1:n.600-108del
ENST00000696153.1:c.575-108del	ENSP00000512444.1:n.575-108del
ENST00000256474.3:c.464-108del MANE Select	ENSP00000256474.3:n.464-108del
ENST00000256474.2:c.464-108del	ENSP00000256474.2:n.464-108del
ENST00000345392.2:c.341-108del	ENSP00000344757.2:n.341-108del
ENST00000477538.1:n.600-108del
NM_000551.3:c.464-108del , LRG_322t1:c.464-108del	NP_000542.1:n.464-108del
NM_198156.2:c.341-108del	NP_937799.1:n.341-108del
NM_001354723.1:c.*18-108del	NP_001341652.1:n.*18-108del
NM_000551.4:c.464-108del MANE Select	NP_000542.1:n.464-108del
NM_001354723.2:c.*18-108del	NP_001341652.1:n.*18-108del
NM_198156.3:c.341-108del	NP_937799.1:n.341-108del