Canonical Allele Identifier: CA2586965626

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141873_10141890dup , CM000665.2:g.10141873_10141890dup	GRCh38
NC_000003.11:g.10183557_10183574dup , CM000665.1:g.10183557_10183574dup	GRCh37
NC_000003.10:g.10158557_10158574dup	NCBI36
NG_008212.3:g.5239_5256dup , LRG_322:g.5239_5256dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.26_43dup	ENSP00000512434.1:p.Gly14_Ala15insAspGluA...
ENST00000696143.1:c.26_43dup	ENSP00000512435.1:p.Gly14_Ala15insAspGluA...
ENST00000696153.1:c.26_43dup	ENSP00000512444.1:p.Gly14_Ala15insAspGluA...
ENST00000256474.3:c.26_43dup MANE Select	ENSP00000256474.3:p.Gly14_Ala15insAspGluA...
ENST00000256474.2:c.26_43dup	ENSP00000256474.2:p.Gly14_Ala15insAspGluA...
ENST00000345392.2:c.26_43dup	ENSP00000344757.2:p.Gly14_Ala15insAspGluA...
NM_000551.3:c.26_43dup , LRG_322t1:c.26_43dup	NP_000542.1:p.Gly14_Ala15insAspGluAlaGluV...
NM_198156.2:c.26_43dup	NP_937799.1:p.Gly14_Ala15insAspGluAlaGluV...
XM_011534078.1:c.26_43dup	XP_011532380.1:p.Gly14_Ala15insAspGluAlaG...
NM_001354723.1:c.26_43dup	NP_001341652.1:p.Gly14_Ala15insAspGluAlaG...
NM_000551.4:c.26_43dup MANE Select	NP_000542.1:p.Gly14_Ala15insAspGluAlaGluV...
NM_001354723.2:c.26_43dup	NP_001341652.1:p.Gly14_Ala15insAspGluAlaG...
NM_198156.3:c.26_43dup	NP_937799.1:p.Gly14_Ala15insAspGluAlaGluV...