Canonical Allele Identifier: CA1345067560

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142985_10142987delinsAAG , CM000665.2:g.10142985_10142987delinsAAG	GRCh38
NC_000003.11:g.10184669_10184671delinsAAG , CM000665.1:g.10184669_10184671delinsAAG	GRCh37
NC_000003.10:g.10159669_10159671delinsAAG	NCBI36
NG_008212.3:g.6351_6353delinsAAG , LRG_322:g.6351_6353delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.563_565delinsAAG	ENSP00000512434.1:p.Glu188=
ENST00000696143.1:c.563_565delinsAAG	ENSP00000512435.1:p.Glu188=
ENST00000696153.1:c.340+798_340+800delinsAAG	ENSP00000512444.1:n.340+798_340+800delinsAAG
ENST00000256474.3:c.340+798_340+800delinsAAG MANE Select	ENSP00000256474.3:n.340+798_340+800delinsAAG
ENST00000256474.2:c.340+798_340+800delinsAAG	ENSP00000256474.2:n.340+798_340+800delinsAAG
ENST00000345392.2:c.340+798_340+800delinsAAG	ENSP00000344757.2:n.340+798_340+800delinsAAG
ENST00000477538.1:n.440_442delinsAAG
NM_000551.3:c.340+798_340+800delinsAAG , LRG_322t1:c.340+798_340+800delinsAAG	NP_000542.1:n.340+798_340+800delinsAAG
NM_198156.2:c.340+798_340+800delinsAAG	NP_937799.1:n.340+798_340+800delinsAAG
XM_011534078.1:c.563_565delinsAAG	XP_011532380.1:p.Glu188=
NM_001354723.1:c.563_565delinsAAG	NP_001341652.1:p.Glu188=
NM_000551.4:c.340+798_340+800delinsAAG MANE Select	NP_000542.1:n.340+798_340+800delinsAAG
NM_001354723.2:c.563_565delinsAAG	NP_001341652.1:p.Glu188=
NM_198156.3:c.340+798_340+800delinsAAG	NP_937799.1:n.340+798_340+800delinsAAG