Canonical Allele Identifier: CA1725948708

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518339_92518340delinsTA , CM000669.2:g.92518339_92518340delinsTA	GRCh38
NC_000007.13:g.92147653_92147654delinsTA , CM000669.1:g.92147653_92147654delinsTA	GRCh37
NC_000007.12:g.91985589_91985590delinsTA	NCBI36
NG_008341.1:g.15192_15193delinsTA
NG_008341.2:g.15192_15193delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-85_358-84delinsTA MANE Select	ENSP00000248633.4:n.358-85_358-84delinsTA
ENST00000248633.8:c.358-85_358-84delinsTA	ENSP00000248633.4:n.358-85_358-84delinsTA
ENST00000428214.5:c.358-85_358-84delinsTA	ENSP00000394413.1:n.358-85_358-84delinsTA
ENST00000438045.5:c.273+3762_273+3763delinsTA	ENSP00000410438.1:n.273+3762_273+3763delinsTA
ENST00000484913.5:n.397-85_397-84delinsTA
NM_000466.2:c.358-85_358-84delinsTA	NP_000457.1:n.358-85_358-84delinsTA
NM_001282677.1:c.358-85_358-84delinsTA	NP_001269606.1:n.358-85_358-84delinsTA
NM_001282678.1:c.-267-85_-267-84delinsTA	NP_001269607.1:n.-267-85_-267-84delinsTA
XR_242246.3:n.454-85_454-84delinsTA
XR_242246.5:n.405-85_405-84delinsTA
NM_000466.3:c.358-85_358-84delinsTA MANE Select	NP_000457.1:n.358-85_358-84delinsTA
NM_001282677.2:c.358-85_358-84delinsTA	NP_001269606.1:n.358-85_358-84delinsTA
NM_001282678.2:c.-267-85_-267-84delinsTA	NP_001269607.1:n.-267-85_-267-84delinsTA