Canonical Allele Identifier: CA2580612129

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149787_10149965del , CM000665.2:g.10149787_10149965del	GRCh38
NC_000003.11:g.10191471_10191649del , CM000665.1:g.10191471_10191649del	GRCh37
NC_000003.10:g.10166471_10166649del	NCBI36
NG_008212.3:g.13153_13331del , LRG_322:g.13153_13331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141_*319del	ENSP00000512434.1:n.*141_*319del
ENST00000696143.1:c.600_778del	ENSP00000512435.1:n.600_778del
ENST00000696153.1:c.575_753del	ENSP00000512444.1:p.Val192GlufsTer?
ENST00000256474.3:c.464_642del MANE Select	ENSP00000256474.3:p.Val155GlufsTer?
ENST00000256474.2:c.464_642del	ENSP00000256474.2:p.Val155GlufsTer?
ENST00000345392.2:c.341_519del	ENSP00000344757.2:p.Val114GlufsTer?
ENST00000477538.1:n.600_778del
NM_000551.3:c.464_642del , LRG_322t1:c.464_642del	NP_000542.1:p.Val155GlufsTer?
NM_198156.2:c.341_519del	NP_937799.1:p.Val114GlufsTer?
NM_001354723.1:c.*18_*196del	NP_001341652.1:n.*18_*196del
NM_000551.4:c.464_642del MANE Select	NP_000542.1:p.Val155GlufsTer?
NM_001354723.2:c.*18_*196del	NP_001341652.1:n.*18_*196del
NM_198156.3:c.341_519del	NP_937799.1:p.Val114GlufsTer?