Canonical Allele Identifier: CA2664400033

Gene: VHL

Linked Data

• gnomAD v4: 3-10149674-TAACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149675_10149678del , CM000665.2:g.10149675_10149678del	GRCh38
NC_000003.11:g.10191359_10191362del , CM000665.1:g.10191359_10191362del	GRCh37
NC_000003.10:g.10166359_10166362del	NCBI36
NG_008212.3:g.13041_13044del , LRG_322:g.13041_13044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-112_*141-109del	ENSP00000512434.1:n.*141-112_*141-109del
ENST00000696143.1:c.600-112_600-109del	ENSP00000512435.1:n.600-112_600-109del
ENST00000696153.1:c.575-112_575-109del	ENSP00000512444.1:n.575-112_575-109del
ENST00000256474.3:c.464-112_464-109del MANE Select	ENSP00000256474.3:n.464-112_464-109del
ENST00000256474.2:c.464-112_464-109del	ENSP00000256474.2:n.464-112_464-109del
ENST00000345392.2:c.341-112_341-109del	ENSP00000344757.2:n.341-112_341-109del
ENST00000477538.1:n.600-112_600-109del
NM_000551.3:c.464-112_464-109del , LRG_322t1:c.464-112_464-109del	NP_000542.1:n.464-112_464-109del
NM_198156.2:c.341-112_341-109del	NP_937799.1:n.341-112_341-109del
NM_001354723.1:c.*18-112_*18-109del	NP_001341652.1:n.*18-112_*18-109del
NM_000551.4:c.464-112_464-109del MANE Select	NP_000542.1:n.464-112_464-109del
NM_001354723.2:c.*18-112_*18-109del	NP_001341652.1:n.*18-112_*18-109del
NM_198156.3:c.341-112_341-109del	NP_937799.1:n.341-112_341-109del