Canonical Allele Identifier: CA432423666

Gene: VHL

Linked Data

• COSMIC: COSM249544
• MyVariant Identifiers: chr3:g.10191568del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149884del , CM000665.2:g.10149884del	GRCh38
NC_000003.11:g.10191568del , CM000665.1:g.10191568del	GRCh37
NC_000003.10:g.10166568del	NCBI36
NG_008212.3:g.13250del , LRG_322:g.13250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*238del	ENSP00000512434.1:n.*238del
ENST00000696143.1:c.697del	ENSP00000512435.1:n.697del
ENST00000696153.1:c.672del	ENSP00000512444.1:p.Leu225TrpfsTer14
ENST00000256474.3:c.561del MANE Select	ENSP00000256474.3:p.Leu188TrpfsTer14
ENST00000256474.2:c.561del	ENSP00000256474.2:p.Leu188TrpfsTer14
ENST00000345392.2:c.438del	ENSP00000344757.2:p.Leu147TrpfsTer14
ENST00000477538.1:n.697del
NM_000551.3:c.561del , LRG_322t1:c.561del	NP_000542.1:p.Leu188TrpfsTer14
NM_198156.2:c.438del	NP_937799.1:p.Leu147TrpfsTer14
NM_001354723.1:c.*115del	NP_001341652.1:n.*115del
NM_000551.4:c.561del MANE Select	NP_000542.1:p.Leu188TrpfsTer14
NM_001354723.2:c.*115del	NP_001341652.1:n.*115del
NM_198156.3:c.438del	NP_937799.1:p.Leu147TrpfsTer14