Canonical Allele Identifier: CA645529529

Gene: VHL

Linked Data

• COSMIC: COSM1732010

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149860_10149861del , CM000665.2:g.10149860_10149861del	GRCh38
NC_000003.11:g.10191544_10191545del , CM000665.1:g.10191544_10191545del	GRCh37
NC_000003.10:g.10166544_10166545del	NCBI36
NG_008212.3:g.13226_13227del , LRG_322:g.13226_13227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*214_*215del	ENSP00000512434.1:n.*214_*215del
ENST00000696143.1:c.673_674del	ENSP00000512435.1:n.673_674del
ENST00000696153.1:c.648_649del	ENSP00000512444.1:p.Ile217ArgfsTer?
ENST00000256474.3:c.537_538del MANE Select	ENSP00000256474.3:p.Ile180ArgfsTer?
ENST00000256474.2:c.537_538del	ENSP00000256474.2:p.Ile180ArgfsTer?
ENST00000345392.2:c.414_415del	ENSP00000344757.2:p.Ile139ArgfsTer?
ENST00000477538.1:n.673_674del
NM_000551.3:c.537_538del , LRG_322t1:c.537_538del	NP_000542.1:p.Ile180ArgfsTer?
NM_198156.2:c.414_415del	NP_937799.1:p.Ile139ArgfsTer?
NM_001354723.1:c.*91_*92del	NP_001341652.1:n.*91_*92del
NM_000551.4:c.537_538del MANE Select	NP_000542.1:p.Ile180ArgfsTer?
NM_001354723.2:c.*91_*92del	NP_001341652.1:n.*91_*92del
NM_198156.3:c.414_415del	NP_937799.1:p.Ile139ArgfsTer?