Canonical Allele Identifier: CA645524780

Gene: VHL

Linked Data

• COSMIC: COSM1169655

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142109_10142110insCGGCT , CM000665.2:g.10142109_10142110insCGGCT	GRCh38
NC_000003.11:g.10183793_10183794insCGGCT , CM000665.1:g.10183793_10183794insCGGCT	GRCh37
NC_000003.10:g.10158793_10158794insCGGCT	NCBI36
NG_008212.3:g.5475_5476insCGGCT , LRG_322:g.5475_5476insCGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.262_263insCGGCT	ENSP00000512434.1:p.Trp88SerfsTer31
ENST00000696143.1:c.262_263insCGGCT	ENSP00000512435.1:p.Trp88SerfsTer31
ENST00000696153.1:c.262_263insCGGCT	ENSP00000512444.1:p.Trp88SerfsTer?
ENST00000256474.3:c.262_263insCGGCT MANE Select	ENSP00000256474.3:p.Trp88SerfsTer?
ENST00000256474.2:c.262_263insCGGCT	ENSP00000256474.2:p.Trp88SerfsTer?
ENST00000345392.2:c.262_263insCGGCT	ENSP00000344757.2:p.Trp88SerfsTer32
NM_000551.3:c.262_263insCGGCT , LRG_322t1:c.262_263insCGGCT	NP_000542.1:p.Trp88SerfsTer?
NM_198156.2:c.262_263insCGGCT	NP_937799.1:p.Trp88SerfsTer32
XM_011534078.1:c.262_263insCGGCT	XP_011532380.1:p.Trp88SerfsTer31
NM_001354723.1:c.262_263insCGGCT	NP_001341652.1:p.Trp88SerfsTer31
NM_000551.4:c.262_263insCGGCT MANE Select	NP_000542.1:p.Trp88SerfsTer?
NM_001354723.2:c.262_263insCGGCT	NP_001341652.1:p.Trp88SerfsTer31
NM_198156.3:c.262_263insCGGCT	NP_937799.1:p.Trp88SerfsTer32