Canonical Allele Identifier: CA432423884

Gene: VHL

Linked Data

• COSMIC: COSM14396
• MyVariant Identifiers: chr3:g.10191614del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149930del , CM000665.2:g.10149930del	GRCh38
NC_000003.11:g.10191614del , CM000665.1:g.10191614del	GRCh37
NC_000003.10:g.10166614del	NCBI36
NG_008212.3:g.13296del , LRG_322:g.13296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284del	ENSP00000512434.1:n.*284del
ENST00000696143.1:c.743del	ENSP00000512435.1:n.743del
ENST00000696153.1:c.718del	ENSP00000512444.1:p.Gln240ArgfsTer16
ENST00000256474.3:c.607del MANE Select	ENSP00000256474.3:p.Gln203ArgfsTer16
ENST00000256474.2:c.607del	ENSP00000256474.2:p.Gln203ArgfsTer16
ENST00000345392.2:c.484del	ENSP00000344757.2:p.Gln162ArgfsTer16
ENST00000477538.1:n.743del
NM_000551.3:c.607del , LRG_322t1:c.607del	NP_000542.1:p.Gln203ArgfsTer16
NM_198156.2:c.484del	NP_937799.1:p.Gln162ArgfsTer16
NM_001354723.1:c.*161del	NP_001341652.1:n.*161del
NM_000551.4:c.607del MANE Select	NP_000542.1:p.Gln203ArgfsTer16
NM_001354723.2:c.*161del	NP_001341652.1:n.*161del
NM_198156.3:c.484del	NP_937799.1:p.Gln162ArgfsTer16