Canonical Allele Identifier: CA2257586908

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576174_35576178delinsCACTA , CM000679.2:g.35576174_35576178delinsCACTA	GRCh38
NC_000017.10:g.33903193_33903197delinsCACTA , CM000679.1:g.33903193_33903197delinsCACTA	GRCh37
NC_000017.9:g.30927306_30927310delinsCACTA	NCBI36
NG_008447.1:g.7460_7464delinsTAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.684_688delinsTAGTG MANE Select	ENSP00000225873.3:p.Val228=
ENST00000586663.2:c.684_688delinsTAGTG	ENSP00000466894.2:p.Val228=
ENST00000225873.8:c.684_688delinsTAGTG	ENSP00000225873.3:p.Val228=
ENST00000586663.1:c.684_688delinsTAGTG	ENSP00000466894.1:p.Val228=
ENST00000613219.4:c.684_688delinsTAGTG	ENSP00000482609.1:p.Val228=
NM_000286.2:c.684_688delinsTAGTG	NP_000277.1:p.Val228=
NM_000286.3:c.684_688delinsTAGTG MANE Select	NP_000277.1:p.Val228=