Canonical Allele Identifier: CA2257586968

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576219_35576221delinsCTT , CM000679.2:g.35576219_35576221delinsCTT	GRCh38
NC_000017.10:g.33903238_33903240delinsCTT , CM000679.1:g.33903238_33903240delinsCTT	GRCh37
NC_000017.9:g.30927351_30927353delinsCTT	NCBI36
NG_008447.1:g.7417_7419delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-40_681-38delinsAAG MANE Select	ENSP00000225873.3:n.681-40_681-38delinsAAG
ENST00000586663.2:c.681-40_681-38delinsAAG	ENSP00000466894.2:n.681-40_681-38delinsAAG
ENST00000225873.8:c.681-40_681-38delinsAAG	ENSP00000225873.3:n.681-40_681-38delinsAAG
ENST00000586663.1:c.681-40_681-38delinsAAG	ENSP00000466894.1:n.681-40_681-38delinsAAG
ENST00000613219.4:c.681-40_681-38delinsAAG	ENSP00000482609.1:n.681-40_681-38delinsAAG
NM_000286.2:c.681-40_681-38delinsAAG	NP_000277.1:n.681-40_681-38delinsAAG
NM_000286.3:c.681-40_681-38delinsAAG MANE Select	NP_000277.1:n.681-40_681-38delinsAAG