Canonical Allele Identifier: CA1725926762

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489567_92489582delinsGGAAGCACATAACCAT , CM000669.2:g.92489567_92489582delinsGGAAGCACATAACCAT	GRCh38
NC_000007.13:g.92118881_92118896delinsGGAAGCACATAACCAT , CM000669.1:g.92118881_92118896delinsGGAAGCACATAACCAT	GRCh37
NC_000007.12:g.91956817_91956832delinsGGAAGCACATAACCAT	NCBI36
NG_008341.1:g.43950_43965delinsATGGTTATGTGCTTCC
NG_008341.2:g.43950_43965delinsATGGTTATGTGCTTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+132_3637-144delinsATGGTTATGTGCTTCC (PEX1) MANE Select	ENSP00000248633.4:n.3636+132_3637-144deli...
ENST00000248633.8:c.3636+132_3637-144delinsATGGTTATGTGCTTCC (PEX1)	ENSP00000248633.4:n.3636+132_3637-144deli...
ENST00000428214.5:c.3465+132_3466-144delinsATGGTTATGTGCTTCC (PEX1)	ENSP00000394413.1:n.3465+132_3466-144deli...
ENST00000438045.5:c.2670+132_2671-144delinsATGGTTATGTGCTTCC (PEX1)	ENSP00000410438.1:n.2670+132_2671-144deli...
ENST00000469417.1:n.533+132_534-144delinsATGGTTATGTGCTTCC (PEX1)
ENST00000477342.1:n.213_228delinsATGGTTATGTGCTTCC (PEX1)
ENST00000484913.5:n.3675+132_3676-144delinsATGGTTATGTGCTTCC (PEX1)
ENST00000496420.5:n.4686+137_4687-144delinsATGGTTATGTGCTTCC (PEX1)
NM_000466.2:c.3636+132_3637-144delinsATGGTTATGTGCTTCC (PEX1)	NP_000457.1:n.3636+132_3637-144delinsATGG...
NM_001282677.1:c.3465+132_3466-144delinsATGGTTATGTGCTTCC (PEX1)	NP_001269606.1:n.3465+132_3466-144delinsA...
NM_001282678.1:c.3012+132_3013-144delinsATGGTTATGTGCTTCC (PEX1)	NP_001269607.1:n.3012+132_3013-144delinsA...
XM_005250433.3:c.1887+132_1888-144delinsATGGTTATGTGCTTCC (PEX1)	XP_005250490.1:n.1887+132_1888-144delinsA...
XR_242246.3:n.3727+137_3728-144delinsATGGTTATGTGCTTCC (PEX1)
XR_927494.1:n.1036-1676_1036-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927495.1:n.1036-519_1036-504delinsGGAAGCACATAACCAT (GATAD1)
XR_927496.1:n.1041-1676_1041-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927497.1:n.1036-519_1036-504delinsGGAAGCACATAACCAT (GATAD1)
XR_927498.1:n.1124-1676_1124-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927500.1:n.1033-1676_1033-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927502.1:n.1033-519_1033-504delinsGGAAGCACATAACCAT (GATAD1)
XR_927503.1:n.967-1676_967-1661delinsGGAAGCACATAACCAT (GATAD1)
XM_017012319.2:c.1887+132_1888-144delinsATGGTTATGTGCTTCC (PEX1)	XP_016867808.1:n.1887+132_1888-144delinsA...
XR_001744808.2:n.2658+137_2659-144delinsATGGTTATGTGCTTCC (PEX1)
XR_001744842.2:n.2281-1676_2281-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_001744843.2:n.2212-1676_2212-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_002956472.1:n.2281-519_2281-504delinsGGAAGCACATAACCAT (GATAD1)
XR_002956473.1:n.2369-1676_2369-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_002956474.1:n.2286-1676_2286-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_242246.5:n.3678+137_3679-144delinsATGGTTATGTGCTTCC (PEX1)
XR_927494.3:n.1063-1676_1063-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927500.3:n.1060-1676_1060-1661delinsGGAAGCACATAACCAT (GATAD1)
XR_927503.3:n.994-1676_994-1661delinsGGAAGCACATAACCAT (GATAD1)
NM_000466.3:c.3636+132_3637-144delinsATGGTTATGTGCTTCC (PEX1) MANE Select	NP_000457.1:n.3636+132_3637-144delinsATGG...
NM_001282677.2:c.3465+132_3466-144delinsATGGTTATGTGCTTCC (PEX1)	NP_001269606.1:n.3465+132_3466-144delinsA...
NM_001282678.2:c.3012+132_3013-144delinsATGGTTATGTGCTTCC (PEX1)	NP_001269607.1:n.3012+132_3013-144delinsA...