Canonical Allele Identifier: CA2257586473

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575950_35575952delinsGCA , CM000679.2:g.35575950_35575952delinsGCA	GRCh38
NC_000017.10:g.33902969_33902971delinsGCA , CM000679.1:g.33902969_33902971delinsGCA	GRCh37
NC_000017.9:g.30927082_30927084delinsGCA	NCBI36
NG_008447.1:g.7686_7688delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.910_912delinsTGC MANE Select	ENSP00000225873.3:p.Cys304=
ENST00000586663.2:c.910_912delinsTGC	ENSP00000466894.2:p.Cys304=
ENST00000225873.8:c.910_912delinsTGC	ENSP00000225873.3:p.Cys304=
ENST00000586663.1:c.910_912delinsTGC	ENSP00000466894.1:p.Cys304=
ENST00000613219.4:c.910_912delinsTGC	ENSP00000482609.1:p.Cys304=
NM_000286.2:c.910_912delinsTGC	NP_000277.1:p.Cys304=
NM_000286.3:c.910_912delinsTGC MANE Select	NP_000277.1:p.Cys304=