Canonical Allele Identifier: CA1725946718

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510838_92510842delinsTTTTA , CM000669.2:g.92510838_92510842delinsTTTTA	GRCh38
NC_000007.13:g.92140152_92140156delinsTTTTA , CM000669.1:g.92140152_92140156delinsTTTTA	GRCh37
NC_000007.12:g.91978088_91978092delinsTTTTA	NCBI36
NG_008341.1:g.22690_22694delinsTAAAA
NG_008341.2:g.22690_22694delinsTAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+102_1587+106delinsTAAAA MANE Select	ENSP00000248633.4:n.1587+102_1587+106deli...
ENST00000248633.8:c.1587+102_1587+106delinsTAAAA	ENSP00000248633.4:n.1587+102_1587+106deli...
ENST00000422866.1:c.488+102_488+106delinsTAAAA
ENST00000428214.5:c.1587+102_1587+106delinsTAAAA	ENSP00000394413.1:n.1587+102_1587+106deli...
ENST00000438045.5:c.621+102_621+106delinsTAAAA	ENSP00000410438.1:n.621+102_621+106delins...
ENST00000484913.5:n.1626+102_1626+106delinsTAAAA
NM_000466.2:c.1587+102_1587+106delinsTAAAA	NP_000457.1:n.1587+102_1587+106delinsTAAA...
NM_001282677.1:c.1587+102_1587+106delinsTAAAA	NP_001269606.1:n.1587+102_1587+106delinsT...
NM_001282678.1:c.963+102_963+106delinsTAAAA	NP_001269607.1:n.963+102_963+106delinsTAA...
XM_005250433.3:c.-80+102_-80+106delinsTAAAA	XP_005250490.1:n.-80+102_-80+106delinsTAA...
XR_242246.3:n.1683+102_1683+106delinsTAAAA
XM_017012319.2:c.-80+102_-80+106delinsTAAAA	XP_016867808.1:n.-80+102_-80+106delinsTAA...
XR_001744808.2:n.697+102_697+106delinsTAAAA
XR_242246.5:n.1634+102_1634+106delinsTAAAA
NM_000466.3:c.1587+102_1587+106delinsTAAAA MANE Select	NP_000457.1:n.1587+102_1587+106delinsTAAA...
NM_001282677.2:c.1587+102_1587+106delinsTAAAA	NP_001269606.1:n.1587+102_1587+106delinsT...
NM_001282678.2:c.963+102_963+106delinsTAAAA	NP_001269607.1:n.963+102_963+106delinsTAA...