Canonical Allele Identifier: CA645525005

Gene: VHL

Linked Data

• COSMIC: COSM253378

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146623_10146624insTAT , CM000665.2:g.10146623_10146624insTAT	GRCh38
NC_000003.11:g.10188307_10188308insTAT , CM000665.1:g.10188307_10188308insTAT	GRCh37
NC_000003.10:g.10163307_10163308insTAT	NCBI36
NG_008212.3:g.9989_9990insTAT , LRG_322:g.9989_9990insTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*127_*128insTAT	ENSP00000512434.1:n.*127_*128insTAT
ENST00000696143.1:c.600-3164_600-3163insTAT	ENSP00000512435.1:n.600-3164_600-3163insTAT
ENST00000696153.1:c.450_451insTAT	ENSP00000512444.1:p.Asn150_Ile151insTyr
ENST00000256474.3:c.450_451insTAT MANE Select	ENSP00000256474.3:p.Asn150_Ile151insTyr
ENST00000256474.2:c.450_451insTAT	ENSP00000256474.2:p.Asn150_Ile151insTyr
ENST00000345392.2:c.341-3164_341-3163insTAT	ENSP00000344757.2:n.341-3164_341-3163insTAT
ENST00000477538.1:n.586_587insTAT
NM_000551.3:c.450_451insTAT , LRG_322t1:c.450_451insTAT	NP_000542.1:p.Asn150_Ile151insTyr
NM_198156.2:c.341-3164_341-3163insTAT	NP_937799.1:n.341-3164_341-3163insTAT
NM_001354723.1:c.*18-3164_*18-3163insTAT	NP_001341652.1:n.*18-3164_*18-3163insTAT
NM_000551.4:c.450_451insTAT MANE Select	NP_000542.1:p.Asn150_Ile151insTyr
NM_001354723.2:c.*18-3164_*18-3163insTAT	NP_001341652.1:n.*18-3164_*18-3163insTAT
NM_198156.3:c.341-3164_341-3163insTAT	NP_937799.1:n.341-3164_341-3163insTAT