Canonical Allele Identifier: CA1725928654

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491543_92491548delinsAATTTT , CM000669.2:g.92491543_92491548delinsAATTTT	GRCh38
NC_000007.13:g.92120857_92120862delinsAATTTT , CM000669.1:g.92120857_92120862delinsAATTTT	GRCh37
NC_000007.12:g.91958793_91958798delinsAATTTT	NCBI36
NG_008341.1:g.41984_41989delinsAAAATT
NG_008341.2:g.41984_41989delinsAAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-46_3208-41delinsAAAATT (PEX1) MANE Select	ENSP00000248633.4:n.3208-46_3208-41delinsAAAATT
ENST00000248633.8:c.3208-46_3208-41delinsAAAATT (PEX1)	ENSP00000248633.4:n.3208-46_3208-41delinsAAAATT
ENST00000428214.5:c.3037-46_3037-41delinsAAAATT (PEX1)	ENSP00000394413.1:n.3037-46_3037-41delinsAAAATT
ENST00000438045.5:c.2242-46_2242-41delinsAAAATT (PEX1)	ENSP00000410438.1:n.2242-46_2242-41delinsAAAATT
ENST00000484913.5:n.3247-46_3247-41delinsAAAATT (PEX1)
ENST00000496420.5:n.4263-46_4263-41delinsAAAATT (PEX1)
NM_000466.2:c.3208-46_3208-41delinsAAAATT (PEX1)	NP_000457.1:n.3208-46_3208-41delinsAAAATT
NM_001282677.1:c.3037-46_3037-41delinsAAAATT (PEX1)	NP_001269606.1:n.3037-46_3037-41delinsAAAATT
NM_001282678.1:c.2584-46_2584-41delinsAAAATT (PEX1)	NP_001269607.1:n.2584-46_2584-41delinsAAAATT
XM_005250433.3:c.1459-46_1459-41delinsAAAATT (PEX1)	XP_005250490.1:n.1459-46_1459-41delinsAAAATT
XR_242246.3:n.3304-46_3304-41delinsAAAATT (PEX1)
XM_017012319.2:c.1459-46_1459-41delinsAAAATT (PEX1)	XP_016867808.1:n.1459-46_1459-41delinsAAAATT
XR_001744808.2:n.2235-46_2235-41delinsAAAATT (PEX1)
XR_001744842.2:n.2581_2586delinsAATTTT (GATAD1)
XR_001744843.2:n.2512_2517delinsAATTTT (GATAD1)
XR_002956472.1:n.2638_2643delinsAATTTT (GATAD1)
XR_002956473.1:n.2669_2674delinsAATTTT (GATAD1)
XR_002956474.1:n.2586_2591delinsAATTTT (GATAD1)
XR_242246.5:n.3255-46_3255-41delinsAAAATT (PEX1)
XR_927494.3:n.1363_1368delinsAATTTT (GATAD1)
XR_927500.3:n.1360_1365delinsAATTTT (GATAD1)
XR_927503.3:n.1294_1299delinsAATTTT (GATAD1)
NM_000466.3:c.3208-46_3208-41delinsAAAATT (PEX1) MANE Select	NP_000457.1:n.3208-46_3208-41delinsAAAATT
NM_001282677.2:c.3037-46_3037-41delinsAAAATT (PEX1)	NP_001269606.1:n.3037-46_3037-41delinsAAAATT
NM_001282678.2:c.2584-46_2584-41delinsAAAATT (PEX1)	NP_001269607.1:n.2584-46_2584-41delinsAAAATT