Canonical Allele Identifier: CA2536676071

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502971_92502972insATTAAACTTTTTTTTT , CM000669.2:g.92502971_92502972insATTAAACTTTTTTTTT	GRCh38
NC_000007.13:g.92132285_92132286insATTAAACTTTTTTTTT , CM000669.1:g.92132285_92132286insATTAAACTTTTTTTTT	GRCh37
NC_000007.12:g.91970221_91970222insATTAAACTTTTTTTTT	NCBI36
NG_008341.1:g.30560_30561insAAAAAAAAAGTTTAAT
NG_008341.2:g.30560_30561insAAAAAAAAAGTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+69_2226+70insAAAAAAAAAGTTTAAT MANE Select	ENSP00000248633.4:n.2226+69_2226+70insAAAAAAAAAGTTTAAT
ENST00000248633.8:c.2226+69_2226+70insAAAAAAAAAGTTTAAT	ENSP00000248633.4:n.2226+69_2226+70insAAAAAAAAAGTTTAAT
ENST00000428214.5:c.2055+69_2055+70insAAAAAAAAAGTTTAAT	ENSP00000394413.1:n.2055+69_2055+70insAAAAAAAAAGTTTAAT
ENST00000438045.5:c.1260+69_1260+70insAAAAAAAAAGTTTAAT	ENSP00000410438.1:n.1260+69_1260+70insAAAAAAAAAGTTTAAT
ENST00000484913.5:n.2265+69_2265+70insAAAAAAAAAGTTTAAT
ENST00000496092.1:n.24+69_24+70insAAAAAAAAAGTTTAAT
ENST00000496420.5:n.1902+69_1902+70insAAAAAAAAAGTTTAAT
NM_000466.2:c.2226+69_2226+70insAAAAAAAAAGTTTAAT	NP_000457.1:n.2226+69_2226+70insAAAAAAAAAGTTTAAT
NM_001282677.1:c.2055+69_2055+70insAAAAAAAAAGTTTAAT	NP_001269606.1:n.2055+69_2055+70insAAAAAAAAAGTTTAAT
NM_001282678.1:c.1602+69_1602+70insAAAAAAAAAGTTTAAT	NP_001269607.1:n.1602+69_1602+70insAAAAAAAAAGTTTAAT
XM_005250433.3:c.477+69_477+70insAAAAAAAAAGTTTAAT	XP_005250490.1:n.477+69_477+70insAAAAAAAAAGTTTAAT
XR_242246.3:n.2322+69_2322+70insAAAAAAAAAGTTTAAT
XM_017012319.2:c.477+69_477+70insAAAAAAAAAGTTTAAT	XP_016867808.1:n.477+69_477+70insAAAAAAAAAGTTTAAT
XR_001744808.2:n.1253+69_1253+70insAAAAAAAAAGTTTAAT
XR_242246.5:n.2273+69_2273+70insAAAAAAAAAGTTTAAT
NM_000466.3:c.2226+69_2226+70insAAAAAAAAAGTTTAAT MANE Select	NP_000457.1:n.2226+69_2226+70insAAAAAAAAAGTTTAAT
NM_001282677.2:c.2055+69_2055+70insAAAAAAAAAGTTTAAT	NP_001269606.1:n.2055+69_2055+70insAAAAAAAAAGTTTAAT
NM_001282678.2:c.1602+69_1602+70insAAAAAAAAAGTTTAAT	NP_001269607.1:n.1602+69_1602+70insAAAAAAAAAGTTTAAT