Canonical Allele Identifier: CA432421890

Gene: VHL

Linked Data

• COSMIC: COSM253372
• MyVariant Identifiers: chr3:g.10188289del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146605del , CM000665.2:g.10146605del	GRCh38
NC_000003.11:g.10188289del , CM000665.1:g.10188289del	GRCh37
NC_000003.10:g.10163289del	NCBI36
NG_008212.3:g.9971del , LRG_322:g.9971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*109del	ENSP00000512434.1:n.*109del
ENST00000696143.1:c.600-3182del	ENSP00000512435.1:n.600-3182del
ENST00000696153.1:c.432del	ENSP00000512444.1:p.Gln145SerfsTer24
ENST00000256474.3:c.432del MANE Select	ENSP00000256474.3:p.Gln145SerfsTer14
ENST00000256474.2:c.432del	ENSP00000256474.2:p.Gln145SerfsTer14
ENST00000345392.2:c.341-3182del	ENSP00000344757.2:n.341-3182del
ENST00000477538.1:n.568del
NM_000551.3:c.432del , LRG_322t1:c.432del	NP_000542.1:p.Gln145SerfsTer14
NM_198156.2:c.341-3182del	NP_937799.1:n.341-3182del
NM_001354723.1:c.*18-3182del	NP_001341652.1:n.*18-3182del
NM_000551.4:c.432del MANE Select	NP_000542.1:p.Gln145SerfsTer14
NM_001354723.2:c.*18-3182del	NP_001341652.1:n.*18-3182del
NM_198156.3:c.341-3182del	NP_937799.1:n.341-3182del