Canonical Allele Identifier: CA2257586461

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575944_35575946delinsCAG , CM000679.2:g.35575944_35575946delinsCAG	GRCh38
NC_000017.10:g.33902963_33902965delinsCAG , CM000679.1:g.33902963_33902965delinsCAG	GRCh37
NC_000017.9:g.30927076_30927078delinsCAG	NCBI36
NG_008447.1:g.7692_7694delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.916_918delinsCTG MANE Select	ENSP00000225873.3:p.Leu306=
ENST00000586663.2:c.916_918delinsCTG	ENSP00000466894.2:p.Leu306=
ENST00000225873.8:c.916_918delinsCTG	ENSP00000225873.3:p.Leu306=
ENST00000586663.1:c.916_918delinsCTG	ENSP00000466894.1:p.Leu306=
ENST00000613219.4:c.916_918delinsCTG	ENSP00000482609.1:p.Leu306=
NM_000286.2:c.916_918delinsCTG	NP_000277.1:p.Leu306=
NM_000286.3:c.916_918delinsCTG MANE Select	NP_000277.1:p.Leu306=