Canonical Allele Identifier: CA2776947466

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518326_92518327insAGA , CM000669.2:g.92518326_92518327insAGA	GRCh38
NC_000007.13:g.92147640_92147641insAGA , CM000669.1:g.92147640_92147641insAGA	GRCh37
NC_000007.12:g.91985576_91985577insAGA	NCBI36
NG_008341.1:g.15205_15206insTCT
NG_008341.2:g.15205_15206insTCT

Transcript Alleles

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