Canonical Allele Identifier: CA645524902

Gene: VHL

Linked Data

• COSMIC: COSM30246

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146535_10146536insG , CM000665.2:g.10146535_10146536insG	GRCh38
NC_000003.11:g.10188219_10188220insG , CM000665.1:g.10188219_10188220insG	GRCh37
NC_000003.10:g.10163219_10163220insG	NCBI36
NG_008212.3:g.9901_9902insG , LRG_322:g.9901_9902insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*39_*40insG	ENSP00000512434.1:n.*39_*40insG
ENST00000696143.1:c.600-3252_600-3251insG	ENSP00000512435.1:n.600-3252_600-3251insG
ENST00000696153.1:c.362_363insG	ENSP00000512444.1:p.Asp121GlufsTer11
ENST00000256474.3:c.362_363insG MANE Select	ENSP00000256474.3:p.Asp121GlufsTer11
ENST00000256474.2:c.362_363insG	ENSP00000256474.2:p.Asp121GlufsTer11
ENST00000345392.2:c.341-3252_341-3251insG	ENSP00000344757.2:n.341-3252_341-3251insG
ENST00000477538.1:n.498_499insG
NM_000551.3:c.362_363insG , LRG_322t1:c.362_363insG	NP_000542.1:p.Asp121GlufsTer11
NM_198156.2:c.341-3252_341-3251insG	NP_937799.1:n.341-3252_341-3251insG
XM_011534078.1:c.*39_*40insG	XP_011532380.1:n.*39_*40insG
NM_001354723.1:c.*18-3252_*18-3251insG	NP_001341652.1:n.*18-3252_*18-3251insG
NM_000551.4:c.362_363insG MANE Select	NP_000542.1:p.Asp121GlufsTer11
NM_001354723.2:c.*18-3252_*18-3251insG	NP_001341652.1:n.*18-3252_*18-3251insG
NM_198156.3:c.341-3252_341-3251insG	NP_937799.1:n.341-3252_341-3251insG