Canonical Allele Identifier: CA645525009

Gene: VHL

Linked Data

• COSMIC: COSM1732001

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146625_10146626insTC , CM000665.2:g.10146625_10146626insTC	GRCh38
NC_000003.11:g.10188309_10188310insTC , CM000665.1:g.10188309_10188310insTC	GRCh37
NC_000003.10:g.10163309_10163310insTC	NCBI36
NG_008212.3:g.9991_9992insTC , LRG_322:g.9991_9992insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*129_*130insTC	ENSP00000512434.1:n.*129_*130insTC
ENST00000696143.1:c.600-3162_600-3161insTC	ENSP00000512435.1:n.600-3162_600-3161insTC
ENST00000696153.1:c.452_453insTC	ENSP00000512444.1:p.Thr152ProfsTer18
ENST00000256474.3:c.452_453insTC MANE Select	ENSP00000256474.3:p.Thr152ProfsTer8
ENST00000256474.2:c.452_453insTC	ENSP00000256474.2:p.Thr152ProfsTer8
ENST00000345392.2:c.341-3162_341-3161insTC	ENSP00000344757.2:n.341-3162_341-3161insTC
ENST00000477538.1:n.588_589insTC
NM_000551.3:c.452_453insTC , LRG_322t1:c.452_453insTC	NP_000542.1:p.Thr152ProfsTer8
NM_198156.2:c.341-3162_341-3161insTC	NP_937799.1:n.341-3162_341-3161insTC
NM_001354723.1:c.*18-3162_*18-3161insTC	NP_001341652.1:n.*18-3162_*18-3161insTC
NM_000551.4:c.452_453insTC MANE Select	NP_000542.1:p.Thr152ProfsTer8
NM_001354723.2:c.*18-3162_*18-3161insTC	NP_001341652.1:n.*18-3162_*18-3161insTC
NM_198156.3:c.341-3162_341-3161insTC	NP_937799.1:n.341-3162_341-3161insTC