Canonical Allele Identifier: CA2257586917

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576182_35576184delinsCTG , CM000679.2:g.35576182_35576184delinsCTG	GRCh38
NC_000017.10:g.33903201_33903203delinsCTG , CM000679.1:g.33903201_33903203delinsCTG	GRCh37
NC_000017.9:g.30927314_30927316delinsCTG	NCBI36
NG_008447.1:g.7454_7456delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-3_681-1delinsCAG MANE Select	ENSP00000225873.3:n.681-3_681-1delinsCAG
ENST00000586663.2:c.681-3_681-1delinsCAG	ENSP00000466894.2:n.681-3_681-1delinsCAG
ENST00000225873.8:c.681-3_681-1delinsCAG	ENSP00000225873.3:n.681-3_681-1delinsCAG
ENST00000586663.1:c.681-3_681-1delinsCAG	ENSP00000466894.1:n.681-3_681-1delinsCAG
ENST00000613219.4:c.681-3_681-1delinsCAG	ENSP00000482609.1:n.681-3_681-1delinsCAG
NM_000286.2:c.681-3_681-1delinsCAG	NP_000277.1:n.681-3_681-1delinsCAG
NM_000286.3:c.681-3_681-1delinsCAG MANE Select	NP_000277.1:n.681-3_681-1delinsCAG