Canonical Allele Identifier: CA645529576

Gene: VHL

Linked Data

• ClinVar Variation Id: 2474487
• ClinVar RCV Id: RCV003203189
• COSMIC: COSM14418

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149915_10149930del , CM000665.2:g.10149915_10149930del	GRCh38
NC_000003.11:g.10191599_10191614del , CM000665.1:g.10191599_10191614del	GRCh37
NC_000003.10:g.10166599_10166614del	NCBI36
NG_008212.3:g.13281_13296del , LRG_322:g.13281_13296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*269_*284del	ENSP00000512434.1:n.*269_*284del
ENST00000696143.1:c.728_743del	ENSP00000512435.1:n.728_743del
ENST00000696153.1:c.703_718del	ENSP00000512444.1:p.Leu235ArgfsTer16
ENST00000256474.3:c.592_607del MANE Select	ENSP00000256474.3:p.Leu198ArgfsTer16
ENST00000256474.2:c.592_607del	ENSP00000256474.2:p.Leu198ArgfsTer16
ENST00000345392.2:c.469_484del	ENSP00000344757.2:p.Leu157ArgfsTer16
ENST00000477538.1:n.728_743del
NM_000551.3:c.592_607del , LRG_322t1:c.592_607del	NP_000542.1:p.Leu198ArgfsTer16
NM_198156.2:c.469_484del	NP_937799.1:p.Leu157ArgfsTer16
NM_001354723.1:c.*146_*161del	NP_001341652.1:n.*146_*161del
NM_000551.4:c.592_607del MANE Select	NP_000542.1:p.Leu198ArgfsTer16
NM_001354723.2:c.*146_*161del	NP_001341652.1:n.*146_*161del
NM_198156.3:c.469_484del	NP_937799.1:p.Leu157ArgfsTer16