Canonical Allele Identifier: CA432423410

Gene: VHL

Linked Data

• COSMIC: COSM17858
• MyVariant Identifiers: chr3:g.10191527del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149844del , CM000665.2:g.10149844del	GRCh38
NC_000003.11:g.10191528del , CM000665.1:g.10191528del	GRCh37
NC_000003.10:g.10166528del	NCBI36
NG_008212.3:g.13210del , LRG_322:g.13210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*198del	ENSP00000512434.1:n.*198del
ENST00000696143.1:c.657del	ENSP00000512435.1:n.657del
ENST00000696153.1:c.632del	ENSP00000512444.1:p.Asn211IlefsTer28
ENST00000256474.3:c.521del MANE Select	ENSP00000256474.3:p.Asn174IlefsTer28
ENST00000256474.2:c.521del	ENSP00000256474.2:p.Asn174IlefsTer28
ENST00000345392.2:c.398del	ENSP00000344757.2:p.Asn133IlefsTer28
ENST00000477538.1:n.657del
NM_000551.3:c.521del , LRG_322t1:c.521del	NP_000542.1:p.Asn174IlefsTer28
NM_198156.2:c.398del	NP_937799.1:p.Asn133IlefsTer28
NM_001354723.1:c.*75del	NP_001341652.1:n.*75del
NM_000551.4:c.521del MANE Select	NP_000542.1:p.Asn174IlefsTer28
NM_001354723.2:c.*75del	NP_001341652.1:n.*75del
NM_198156.3:c.398del	NP_937799.1:p.Asn133IlefsTer28