Canonical Allele Identifier: CA1725947144

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517284_92517285delinsTC , CM000669.2:g.92517284_92517285delinsTC	GRCh38
NC_000007.13:g.92146598_92146599delinsTC , CM000669.1:g.92146598_92146599delinsTC	GRCh37
NC_000007.12:g.91984534_91984535delinsTC	NCBI36
NG_008341.1:g.16247_16248delinsGA
NG_008341.2:g.16247_16248delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1230_1231delinsGA MANE Select	ENSP00000248633.4:p.Gly410=
ENST00000248633.8:c.1230_1231delinsGA	ENSP00000248633.4:p.Gly410=
ENST00000422866.1:c.131_132delinsGA
ENST00000428214.5:c.1230_1231delinsGA	ENSP00000394413.1:p.Gly410=
ENST00000438045.5:c.274-3318_274-3317delinsGA	ENSP00000410438.1:n.274-3318_274-3317delinsGA
ENST00000484913.5:n.1269_1270delinsGA
NM_000466.2:c.1230_1231delinsGA	NP_000457.1:p.Gly410=
NM_001282677.1:c.1230_1231delinsGA	NP_001269606.1:p.Gly410=
NM_001282678.1:c.606_607delinsGA	NP_001269607.1:p.Gly202=
XR_242246.3:n.1326_1327delinsGA
XM_017012319.2:c.-437_-436delinsGA	XP_016867808.1:n.-437_-436delinsGA
XR_001744808.2:n.340_341delinsGA
XR_242246.5:n.1277_1278delinsGA
NM_000466.3:c.1230_1231delinsGA MANE Select	NP_000457.1:p.Gly410=
NM_001282677.2:c.1230_1231delinsGA	NP_001269606.1:p.Gly410=
NM_001282678.2:c.606_607delinsGA	NP_001269607.1:p.Gly202=