Canonical Allele Identifier: CA645524905

Gene: VHL

Linked Data

• COSMIC: COSM18146

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146543_10146544insTGCAGGA , CM000665.2:g.10146543_10146544insTGCAGGA	GRCh38
NC_000003.11:g.10188227_10188228insTGCAGGA , CM000665.1:g.10188227_10188228insTGCAGGA	GRCh37
NC_000003.10:g.10163227_10163228insTGCAGGA	NCBI36
NG_008212.3:g.9909_9910insTGCAGGA , LRG_322:g.9909_9910insTGCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*47_*48insTGCAGGA	ENSP00000512434.1:n.*47_*48insTGCAGGA
ENST00000696143.1:c.600-3244_600-3243insTGCAGGA	ENSP00000512435.1:n.600-3244_600-3243insTGCAGGA
ENST00000696153.1:c.370_371insTGCAGGA	ENSP00000512444.1:p.Thr124MetfsTer10
ENST00000256474.3:c.370_371insTGCAGGA MANE Select	ENSP00000256474.3:p.Thr124MetfsTer10
ENST00000256474.2:c.370_371insTGCAGGA	ENSP00000256474.2:p.Thr124MetfsTer10
ENST00000345392.2:c.341-3244_341-3243insTGCAGGA	ENSP00000344757.2:n.341-3244_341-3243insTGCAGGA
ENST00000477538.1:n.506_507insTGCAGGA
NM_000551.3:c.370_371insTGCAGGA , LRG_322t1:c.370_371insTGCAGGA	NP_000542.1:p.Thr124MetfsTer10
NM_198156.2:c.341-3244_341-3243insTGCAGGA	NP_937799.1:n.341-3244_341-3243insTGCAGGA
XM_011534078.1:c.*47_*48insTGCAGGA	XP_011532380.1:n.*47_*48insTGCAGGA
NM_001354723.1:c.*18-3244_*18-3243insTGCAGGA	NP_001341652.1:n.*18-3244_*18-3243insTGCAGGA
NM_000551.4:c.370_371insTGCAGGA MANE Select	NP_000542.1:p.Thr124MetfsTer10
NM_001354723.2:c.*18-3244_*18-3243insTGCAGGA	NP_001341652.1:n.*18-3244_*18-3243insTGCAGGA
NM_198156.3:c.341-3244_341-3243insTGCAGGA	NP_937799.1:n.341-3244_341-3243insTGCAGGA