Canonical Allele Identifier: CA2558239197

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575943_35575944insGAAGTACAACAT , CM000679.2:g.35575943_35575944insGAAGTACAACAT	GRCh38
NC_000017.10:g.33902962_33902963insGAAGTACAACAT , CM000679.1:g.33902962_33902963insGAAGTACAACAT	GRCh37
NC_000017.9:g.30927075_30927076insGAAGTACAACAT	NCBI36
NG_008447.1:g.7694_7695insATGTTGTACTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.918_919insATGTTGTACTTC MANE Select	ENSP00000225873.3:p.Leu306_Cys307insMetLeuTyrPhe
ENST00000586663.2:c.918_919insATGTTGTACTTC	ENSP00000466894.2:p.Leu306_Cys307insMetLeuTyrPhe
ENST00000225873.8:c.918_919insATGTTGTACTTC	ENSP00000225873.3:p.Leu306_Cys307insMetLeuTyrPhe
ENST00000586663.1:c.918_919insATGTTGTACTTC	ENSP00000466894.1:p.Leu306_Cys307insMetLeuTyrPhe
ENST00000613219.4:c.918_919insATGTTGTACTTC	ENSP00000482609.1:p.Leu306_Cys307insMetLeuTyrPhe
NM_000286.2:c.918_919insATGTTGTACTTC	NP_000277.1:p.Leu306_Cys307insMetLeuTyrPhe
NM_000286.3:c.918_919insATGTTGTACTTC MANE Select	NP_000277.1:p.Leu306_Cys307insMetLeuTyrPhe