Canonical Allele Identifier: CA2501548609

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142169_10142170insTG , CM000665.2:g.10142169_10142170insTG	GRCh38
NC_000003.11:g.10183853_10183854insTG , CM000665.1:g.10183853_10183854insTG	GRCh37
NC_000003.10:g.10158853_10158854insTG	NCBI36
NG_008212.3:g.5535_5536insTG , LRG_322:g.5535_5536insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.322_323insTG	ENSP00000512434.1:p.Arg108LeufsTer10
ENST00000696143.1:c.322_323insTG	ENSP00000512435.1:p.Arg108LeufsTer10
ENST00000696153.1:c.322_323insTG	ENSP00000512444.1:p.Arg108LeufsTer?
ENST00000256474.3:c.322_323insTG MANE Select	ENSP00000256474.3:p.Arg108LeufsTer?
ENST00000256474.2:c.322_323insTG	ENSP00000256474.2:p.Arg108LeufsTer?
ENST00000345392.2:c.322_323insTG	ENSP00000344757.2:p.Arg108LeufsTer11
NM_000551.3:c.322_323insTG , LRG_322t1:c.322_323insTG	NP_000542.1:p.Arg108LeufsTer?
NM_198156.2:c.322_323insTG	NP_937799.1:p.Arg108LeufsTer11
XM_011534078.1:c.322_323insTG	XP_011532380.1:p.Arg108LeufsTer10
NM_001354723.1:c.322_323insTG	NP_001341652.1:p.Arg108LeufsTer10
NM_000551.4:c.322_323insTG MANE Select	NP_000542.1:p.Arg108LeufsTer?
NM_001354723.2:c.322_323insTG	NP_001341652.1:p.Arg108LeufsTer10
NM_198156.3:c.322_323insTG	NP_937799.1:p.Arg108LeufsTer11