Canonical Allele Identifier: CA2664400081

Gene: VHL

Linked Data

• gnomAD v4: 3-10149931-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149933del , CM000665.2:g.10149933del	GRCh38
NC_000003.11:g.10191617del , CM000665.1:g.10191617del	GRCh37
NC_000003.10:g.10166617del	NCBI36
NG_008212.3:g.13299del , LRG_322:g.13299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*287del	ENSP00000512434.1:n.*287del
ENST00000696143.1:c.746del	ENSP00000512435.1:n.746del
ENST00000696153.1:c.721del	ENSP00000512444.1:p.Glu241SerfsTer15
ENST00000256474.3:c.610del MANE Select	ENSP00000256474.3:p.Glu204SerfsTer15
ENST00000256474.2:c.610del	ENSP00000256474.2:p.Glu204SerfsTer15
ENST00000345392.2:c.487del	ENSP00000344757.2:p.Glu163SerfsTer15
ENST00000477538.1:n.746del
NM_000551.3:c.610del , LRG_322t1:c.610del	NP_000542.1:p.Glu204SerfsTer15
NM_198156.2:c.487del	NP_937799.1:p.Glu163SerfsTer15
NM_001354723.1:c.*164del	NP_001341652.1:n.*164del
NM_000551.4:c.610del MANE Select	NP_000542.1:p.Glu204SerfsTer15
NM_001354723.2:c.*164del	NP_001341652.1:n.*164del
NM_198156.3:c.487del	NP_937799.1:p.Glu163SerfsTer15