Canonical Allele Identifier: CA432423704

Gene: VHL

Linked Data

• COSMIC: COSM18340
• MyVariant Identifiers: chr3:g.10191575del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149891del , CM000665.2:g.10149891del	GRCh38
NC_000003.11:g.10191575del , CM000665.1:g.10191575del	GRCh37
NC_000003.10:g.10166575del	NCBI36
NG_008212.3:g.13257del , LRG_322:g.13257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*245del	ENSP00000512434.1:n.*245del
ENST00000696143.1:c.704del	ENSP00000512435.1:n.704del
ENST00000696153.1:c.679del	ENSP00000512444.1:p.Asp227ThrfsTer12
ENST00000256474.3:c.568del MANE Select	ENSP00000256474.3:p.Asp190ThrfsTer12
ENST00000256474.2:c.568del	ENSP00000256474.2:p.Asp190ThrfsTer12
ENST00000345392.2:c.445del	ENSP00000344757.2:p.Asp149ThrfsTer12
ENST00000477538.1:n.704del
NM_000551.3:c.568del , LRG_322t1:c.568del	NP_000542.1:p.Asp190ThrfsTer12
NM_198156.2:c.445del	NP_937799.1:p.Asp149ThrfsTer12
NM_001354723.1:c.*122del	NP_001341652.1:n.*122del
NM_000551.4:c.568del MANE Select	NP_000542.1:p.Asp190ThrfsTer12
NM_001354723.2:c.*122del	NP_001341652.1:n.*122del
NM_198156.3:c.445del	NP_937799.1:p.Asp149ThrfsTer12