Canonical Allele Identifier: CA1725947236

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517393_92517414delinsATGATCTGACCTAATTTTTTTT , CM000669.2:g.92517393_92517414delinsATGATCTGACCTAATTTTTTTT	GRCh38
NC_000007.13:g.92146707_92146728delinsATGATCTGACCTAATTTTTTTT , CM000669.1:g.92146707_92146728delinsATGATCTGACCTAATTTTTTTT	GRCh37
NC_000007.12:g.91984643_91984664delinsATGATCTGACCTAATTTTTTTT	NCBI36
NG_008341.1:g.16118_16139delinsAAAAAAAATTAGGTCAGATCAT
NG_008341.2:g.16118_16139delinsAAAAAAAATTAGGTCAGATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT MANE Select	ENSP00000248633.4:p.Gln367=
ENST00000248633.8:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT	ENSP00000248633.4:p.Gln367=
ENST00000422866.1:c.2_23delinsAAAAAAAATTAGGTCAGATCAT
ENST00000428214.5:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT	ENSP00000394413.1:p.Gln367=
ENST00000438045.5:c.274-3447_274-3426delinsAAAAAAAATTAGGTCAGATCAT	ENSP00000410438.1:n.274-3447_274-3426delinsAAAAAAAATTAGGTCAGA...
ENST00000484913.5:n.1140_1161delinsAAAAAAAATTAGGTCAGATCAT
NM_000466.2:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT	NP_000457.1:p.Gln367=
NM_001282677.1:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT	NP_001269606.1:p.Gln367=
NM_001282678.1:c.477_498delinsAAAAAAAATTAGGTCAGATCAT	NP_001269607.1:p.Gln159=
XR_242246.3:n.1197_1218delinsAAAAAAAATTAGGTCAGATCAT
XM_017012319.2:c.-566_-545delinsAAAAAAAATTAGGTCAGATCAT	XP_016867808.1:n.-566_-545delinsAAAAAAAATTAGGTCAGATCAT
XR_001744808.2:n.211_232delinsAAAAAAAATTAGGTCAGATCAT
XR_242246.5:n.1148_1169delinsAAAAAAAATTAGGTCAGATCAT
NM_000466.3:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT MANE Select	NP_000457.1:p.Gln367=
NM_001282677.2:c.1101_1122delinsAAAAAAAATTAGGTCAGATCAT	NP_001269606.1:p.Gln367=
NM_001282678.2:c.477_498delinsAAAAAAAATTAGGTCAGATCAT	NP_001269607.1:p.Gln159=