Canonical Allele Identifier: CA2257586426

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575918_35575920delinsGTA , CM000679.2:g.35575918_35575920delinsGTA	GRCh38
NC_000017.10:g.33902937_33902939delinsGTA , CM000679.1:g.33902937_33902939delinsGTA	GRCh37
NC_000017.9:g.30927050_30927052delinsGTA	NCBI36
NG_008447.1:g.7718_7720delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.942_944delinsTAC MANE Select	ENSP00000225873.3:p.Asp314=
ENST00000586663.2:c.942_944delinsTAC	ENSP00000466894.2:p.Asp314=
ENST00000225873.8:c.942_944delinsTAC	ENSP00000225873.3:p.Asp314=
ENST00000586663.1:c.942_944delinsTAC	ENSP00000466894.1:p.Asp314=
ENST00000613219.4:c.942_944delinsTAC	ENSP00000482609.1:p.Asp314=
NM_000286.2:c.942_944delinsTAC	NP_000277.1:p.Asp314=
NM_000286.3:c.942_944delinsTAC MANE Select	NP_000277.1:p.Asp314=