Canonical Allele Identifier: CA645529543

Gene: VHL

Linked Data

• COSMIC: COSM18330

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149876_10149877insG , CM000665.2:g.10149876_10149877insG	GRCh38
NC_000003.11:g.10191560_10191561insG , CM000665.1:g.10191560_10191561insG	GRCh37
NC_000003.10:g.10166560_10166561insG	NCBI36
NG_008212.3:g.13242_13243insG , LRG_322:g.13242_13243insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*230_*231insG	ENSP00000512434.1:n.*230_*231insG
ENST00000696143.1:c.689_690insG	ENSP00000512435.1:n.689_690insG
ENST00000696153.1:c.664_665insG	ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.553_554insG MANE Select	ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.553_554insG	ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.430_431insG	ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.689_690insG
NM_000551.3:c.553_554insG , LRG_322t1:c.553_554insG	NP_000542.1:p.Tyr185Ter
NM_198156.2:c.430_431insG	NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*107_*108insG	NP_001341652.1:n.*107_*108insG
NM_000551.4:c.553_554insG MANE Select	NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*107_*108insG	NP_001341652.1:n.*107_*108insG
NM_198156.3:c.430_431insG	NP_937799.1:p.Tyr144Ter