Canonical Allele Identifier: CA2776945578

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491563_92491564insACCAAACACACCCAACACA , CM000669.2:g.92491563_92491564insACCAAACACACCCAACACA	GRCh38
NC_000007.13:g.92120877_92120878insACCAAACACACCCAACACA , CM000669.1:g.92120877_92120878insACCAAACACACCCAACACA	GRCh37
NC_000007.12:g.91958813_91958814insACCAAACACACCCAACACA	NCBI36
NG_008341.1:g.41969_41970insGTGTTGGGTGTGTTTGGTT
NG_008341.2:g.41969_41970insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT (PEX1) MANE Select	ENSP00000248633.4:n.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT
ENST00000248633.8:c.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT (PEX1)	ENSP00000248633.4:n.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT
ENST00000428214.5:c.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT (PEX1)	ENSP00000394413.1:n.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT
ENST00000438045.5:c.2242-61_2242-60insGTGTTGGGTGTGTTTGGTT (PEX1)	ENSP00000410438.1:n.2242-61_2242-60insGTGTTGGGTGTGTTTGGTT
ENST00000484913.5:n.3247-61_3247-60insGTGTTGGGTGTGTTTGGTT (PEX1)
ENST00000496420.5:n.4263-61_4263-60insGTGTTGGGTGTGTTTGGTT (PEX1)
NM_000466.2:c.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT (PEX1)	NP_000457.1:n.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT
NM_001282677.1:c.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT (PEX1)	NP_001269606.1:n.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT
NM_001282678.1:c.2584-61_2584-60insGTGTTGGGTGTGTTTGGTT (PEX1)	NP_001269607.1:n.2584-61_2584-60insGTGTTGGGTGTGTTTGGTT
XM_005250433.3:c.1459-61_1459-60insGTGTTGGGTGTGTTTGGTT (PEX1)	XP_005250490.1:n.1459-61_1459-60insGTGTTGGGTGTGTTTGGTT
XR_242246.3:n.3304-61_3304-60insGTGTTGGGTGTGTTTGGTT (PEX1)
XM_017012319.2:c.1459-61_1459-60insGTGTTGGGTGTGTTTGGTT (PEX1)	XP_016867808.1:n.1459-61_1459-60insGTGTTGGGTGTGTTTGGTT
XR_001744808.2:n.2235-61_2235-60insGTGTTGGGTGTGTTTGGTT (PEX1)
XR_001744842.2:n.2601_2602insACCAAACACACCCAACACA (GATAD1)
XR_001744843.2:n.2532_2533insACCAAACACACCCAACACA (GATAD1)
XR_002956472.1:n.2658_2659insACCAAACACACCCAACACA (GATAD1)
XR_002956473.1:n.2689_2690insACCAAACACACCCAACACA (GATAD1)
XR_002956474.1:n.2606_2607insACCAAACACACCCAACACA (GATAD1)
XR_242246.5:n.3255-61_3255-60insGTGTTGGGTGTGTTTGGTT (PEX1)
XR_927494.3:n.1383_1384insACCAAACACACCCAACACA (GATAD1)
XR_927500.3:n.1380_1381insACCAAACACACCCAACACA (GATAD1)
XR_927503.3:n.1314_1315insACCAAACACACCCAACACA (GATAD1)
NM_000466.3:c.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT (PEX1) MANE Select	NP_000457.1:n.3208-61_3208-60insGTGTTGGGTGTGTTTGGTT
NM_001282677.2:c.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT (PEX1)	NP_001269606.1:n.3037-61_3037-60insGTGTTGGGTGTGTTTGGTT
NM_001282678.2:c.2584-61_2584-60insGTGTTGGGTGTGTTTGGTT (PEX1)	NP_001269607.1:n.2584-61_2584-60insGTGTTGGGTGTGTTTGGTT