Canonical Allele Identifier: CA1725949458

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519142_92519145delinsTAAG , CM000669.2:g.92519142_92519145delinsTAAG	GRCh38
NC_000007.13:g.92148456_92148459delinsTAAG , CM000669.1:g.92148456_92148459delinsTAAG	GRCh37
NC_000007.12:g.91986392_91986395delinsTAAG	NCBI36
NG_008341.1:g.14387_14390delinsCTTA
NG_008341.2:g.14387_14390delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-67_274-64delinsCTTA MANE Select	ENSP00000248633.4:n.274-67_274-64delinsCTTA
ENST00000248633.8:c.274-67_274-64delinsCTTA	ENSP00000248633.4:n.274-67_274-64delinsCTTA
ENST00000428214.5:c.274-67_274-64delinsCTTA	ENSP00000394413.1:n.274-67_274-64delinsCTTA
ENST00000438045.5:c.273+2957_273+2960delinsCTTA	ENSP00000410438.1:n.273+2957_273+2960delinsCTTA
ENST00000484913.5:n.278-67_278-64delinsCTTA
NM_000466.2:c.274-67_274-64delinsCTTA	NP_000457.1:n.274-67_274-64delinsCTTA
NM_001282677.1:c.274-67_274-64delinsCTTA	NP_001269606.1:n.274-67_274-64delinsCTTA
NM_001282678.1:c.-386-67_-386-64delinsCTTA	NP_001269607.1:n.-386-67_-386-64delinsCTTA
XR_242246.3:n.370-67_370-64delinsCTTA
XR_242246.5:n.321-67_321-64delinsCTTA
NM_000466.3:c.274-67_274-64delinsCTTA MANE Select	NP_000457.1:n.274-67_274-64delinsCTTA
NM_001282677.2:c.274-67_274-64delinsCTTA	NP_001269606.1:n.274-67_274-64delinsCTTA
NM_001282678.2:c.-386-67_-386-64delinsCTTA	NP_001269607.1:n.-386-67_-386-64delinsCTTA