Canonical Allele Identifier: CA2776947464

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518326_92518327insA , CM000669.2:g.92518326_92518327insA	GRCh38
NC_000007.13:g.92147640_92147641insA , CM000669.1:g.92147640_92147641insA	GRCh37
NC_000007.12:g.91985576_91985577insA	NCBI36
NG_008341.1:g.15205_15206insT
NG_008341.2:g.15205_15206insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-72_358-71insT MANE Select	ENSP00000248633.4:n.358-72_358-71insT
ENST00000248633.8:c.358-72_358-71insT	ENSP00000248633.4:n.358-72_358-71insT
ENST00000428214.5:c.358-72_358-71insT	ENSP00000394413.1:n.358-72_358-71insT
ENST00000438045.5:c.273+3775_273+3776insT	ENSP00000410438.1:n.273+3775_273+3776insT
ENST00000484913.5:n.397-72_397-71insT
NM_000466.2:c.358-72_358-71insT	NP_000457.1:n.358-72_358-71insT
NM_001282677.1:c.358-72_358-71insT	NP_001269606.1:n.358-72_358-71insT
NM_001282678.1:c.-267-72_-267-71insT	NP_001269607.1:n.-267-72_-267-71insT
XR_242246.3:n.454-72_454-71insT
XR_242246.5:n.405-72_405-71insT
NM_000466.3:c.358-72_358-71insT MANE Select	NP_000457.1:n.358-72_358-71insT
NM_001282677.2:c.358-72_358-71insT	NP_001269606.1:n.358-72_358-71insT
NM_001282678.2:c.-267-72_-267-71insT	NP_001269607.1:n.-267-72_-267-71insT