Canonical Allele Identifier: CA2257586927

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576184_35576186delinsGTT , CM000679.2:g.35576184_35576186delinsGTT	GRCh38
NC_000017.10:g.33903203_33903205delinsGTT , CM000679.1:g.33903203_33903205delinsGTT	GRCh37
NC_000017.9:g.30927316_30927318delinsGTT	NCBI36
NG_008447.1:g.7452_7454delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-5_681-3delinsAAC MANE Select	ENSP00000225873.3:n.681-5_681-3delinsAAC
ENST00000586663.2:c.681-5_681-3delinsAAC	ENSP00000466894.2:n.681-5_681-3delinsAAC
ENST00000225873.8:c.681-5_681-3delinsAAC	ENSP00000225873.3:n.681-5_681-3delinsAAC
ENST00000586663.1:c.681-5_681-3delinsAAC	ENSP00000466894.1:n.681-5_681-3delinsAAC
ENST00000613219.4:c.681-5_681-3delinsAAC	ENSP00000482609.1:n.681-5_681-3delinsAAC
NM_000286.2:c.681-5_681-3delinsAAC	NP_000277.1:n.681-5_681-3delinsAAC
NM_000286.3:c.681-5_681-3delinsAAC MANE Select	NP_000277.1:n.681-5_681-3delinsAAC