Canonical Allele Identifier: CA2586965627

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146518_10146519insT , CM000665.2:g.10146518_10146519insT	GRCh38
NC_000003.11:g.10188202_10188203insT , CM000665.1:g.10188202_10188203insT	GRCh37
NC_000003.10:g.10163202_10163203insT	NCBI36
NG_008212.3:g.9884_9885insT , LRG_322:g.9884_9885insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*22_*23insT	ENSP00000512434.1:n.*22_*23insT
ENST00000696143.1:c.600-3269_600-3268insT	ENSP00000512435.1:n.600-3269_600-3268insT
ENST00000696153.1:c.345_346insT	ENSP00000512444.1:p.Leu116SerfsTer16
ENST00000256474.3:c.345_346insT MANE Select	ENSP00000256474.3:p.Leu116SerfsTer16
ENST00000256474.2:c.345_346insT	ENSP00000256474.2:p.Leu116SerfsTer16
ENST00000345392.2:c.341-3269_341-3268insT	ENSP00000344757.2:n.341-3269_341-3268insT
ENST00000477538.1:n.481_482insT
NM_000551.3:c.345_346insT , LRG_322t1:c.345_346insT	NP_000542.1:p.Leu116SerfsTer16
NM_198156.2:c.341-3269_341-3268insT	NP_937799.1:n.341-3269_341-3268insT
XM_011534078.1:c.*22_*23insT	XP_011532380.1:n.*22_*23insT
NM_001354723.1:c.*18-3269_*18-3268insT	NP_001341652.1:n.*18-3269_*18-3268insT
NM_000551.4:c.345_346insT MANE Select	NP_000542.1:p.Leu116SerfsTer16
NM_001354723.2:c.*18-3269_*18-3268insT	NP_001341652.1:n.*18-3269_*18-3268insT
NM_198156.3:c.341-3269_341-3268insT	NP_937799.1:n.341-3269_341-3268insT