Canonical Allele Identifier: CA645525032

Gene: VHL

Linked Data

• COSMIC: COSM4770219

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149788_10149789insA , CM000665.2:g.10149788_10149789insA	GRCh38
NC_000003.11:g.10191472_10191473insA , CM000665.1:g.10191472_10191473insA	GRCh37
NC_000003.10:g.10166472_10166473insA	NCBI36
NG_008212.3:g.13154_13155insA , LRG_322:g.13154_13155insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*142_*143insA	ENSP00000512434.1:n.*142_*143insA
ENST00000696143.1:c.601_602insA	ENSP00000512435.1:n.601_602insA
ENST00000696153.1:c.576_577insA	ENSP00000512444.1:p.Tyr193IlefsTer18
ENST00000256474.3:c.465_466insA MANE Select	ENSP00000256474.3:p.Tyr156IlefsTer18
ENST00000256474.2:c.465_466insA	ENSP00000256474.2:p.Tyr156IlefsTer18
ENST00000345392.2:c.342_343insA	ENSP00000344757.2:p.Tyr115IlefsTer18
ENST00000477538.1:n.601_602insA
NM_000551.3:c.465_466insA , LRG_322t1:c.465_466insA	NP_000542.1:p.Tyr156IlefsTer18
NM_198156.2:c.342_343insA	NP_937799.1:p.Tyr115IlefsTer18
NM_001354723.1:c.*19_*20insA	NP_001341652.1:n.*19_*20insA
NM_000551.4:c.465_466insA MANE Select	NP_000542.1:p.Tyr156IlefsTer18
NM_001354723.2:c.*19_*20insA	NP_001341652.1:n.*19_*20insA
NM_198156.3:c.342_343insA	NP_937799.1:p.Tyr115IlefsTer18