Canonical Allele Identifier: CA1345062372

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149828_10149829delinsCT , CM000665.2:g.10149828_10149829delinsCT	GRCh38
NC_000003.11:g.10191512_10191513delinsCT , CM000665.1:g.10191512_10191513delinsCT	GRCh37
NC_000003.10:g.10166512_10166513delinsCT	NCBI36
NG_008212.3:g.13194_13195delinsCT , LRG_322:g.13194_13195delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*182_*183delinsCT	ENSP00000512434.1:n.*182_*183delinsCT
ENST00000696143.1:c.641_642delinsCT	ENSP00000512435.1:n.641_642delinsCT
ENST00000696153.1:c.616_617delinsCT	ENSP00000512444.1:p.Leu206=
ENST00000256474.3:c.505_506delinsCT MANE Select	ENSP00000256474.3:p.Leu169=
ENST00000256474.2:c.505_506delinsCT	ENSP00000256474.2:p.Leu169=
ENST00000345392.2:c.382_383delinsCT	ENSP00000344757.2:p.Leu128=
ENST00000477538.1:n.641_642delinsCT
NM_000551.3:c.505_506delinsCT , LRG_322t1:c.505_506delinsCT	NP_000542.1:p.Leu169=
NM_198156.2:c.382_383delinsCT	NP_937799.1:p.Leu128=
NM_001354723.1:c.*59_*60delinsCT	NP_001341652.1:n.*59_*60delinsCT
NM_000551.4:c.505_506delinsCT MANE Select	NP_000542.1:p.Leu169=
NM_001354723.2:c.*59_*60delinsCT	NP_001341652.1:n.*59_*60delinsCT
NM_198156.3:c.382_383delinsCT	NP_937799.1:p.Leu128=