Canonical Allele Identifier: CA1725928615

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791319174

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491500_92491501insGATGAATCAAAATTCAATATG , CM000669.2:g.92491500_92491501insGATGAATCAAAATTCAATATG	GRCh38
NC_000007.13:g.92120814_92120815insGATGAATCAAAATTCAATATG , CM000669.1:g.92120814_92120815insGATGAATCAAAATTCAATATG	GRCh37
NC_000007.12:g.91958750_91958751insGATGAATCAAAATTCAATATG	NCBI36
NG_008341.1:g.42031_42032insCATATTGAATTTTGATTCATC
NG_008341.2:g.42031_42032insCATATTGAATTTTGATTCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3209_3210insCATATTGAATTTTGATTCATC (PEX1) MANE Select	ENSP00000248633.4:p.Asp1070_Gly1071insIleLeuAsnPheAspSerSer
ENST00000248633.8:c.3209_3210insCATATTGAATTTTGATTCATC (PEX1)	ENSP00000248633.4:p.Asp1070_Gly1071insIleLeuAsnPheAspSerSer
ENST00000428214.5:c.3038_3039insCATATTGAATTTTGATTCATC (PEX1)	ENSP00000394413.1:p.Asp1013_Gly1014insIleLeuAsnPheAspSerSer
ENST00000438045.5:c.2243_2244insCATATTGAATTTTGATTCATC (PEX1)	ENSP00000410438.1:p.Asp748_Gly749insIleLeuAsnPheAspSerSer
ENST00000484913.5:n.3248_3249insCATATTGAATTTTGATTCATC (PEX1)
ENST00000496420.5:n.4264_4265insCATATTGAATTTTGATTCATC (PEX1)
NM_000466.2:c.3209_3210insCATATTGAATTTTGATTCATC (PEX1)	NP_000457.1:p.Asp1070_Gly1071insIleLeuAsnPheAspSerSer
NM_001282677.1:c.3038_3039insCATATTGAATTTTGATTCATC (PEX1)	NP_001269606.1:p.Asp1013_Gly1014insIleLeuAsnPheAspSerSer
NM_001282678.1:c.2585_2586insCATATTGAATTTTGATTCATC (PEX1)	NP_001269607.1:p.Asp862_Gly863insIleLeuAsnPheAspSerSer
XM_005250433.3:c.1460_1461insCATATTGAATTTTGATTCATC (PEX1)	XP_005250490.1:p.Asp487_Gly488insIleLeuAsnPheAspSerSer
XR_242246.3:n.3305_3306insCATATTGAATTTTGATTCATC (PEX1)
XM_017012319.2:c.1460_1461insCATATTGAATTTTGATTCATC (PEX1)	XP_016867808.1:p.Asp487_Gly488insIleLeuAsnPheAspSerSer
XR_001744808.2:n.2236_2237insCATATTGAATTTTGATTCATC (PEX1)
XR_001744842.2:n.2538_2539insGATGAATCAAAATTCAATATG (GATAD1)
XR_001744843.2:n.2469_2470insGATGAATCAAAATTCAATATG (GATAD1)
XR_002956472.1:n.2595_2596insGATGAATCAAAATTCAATATG (GATAD1)
XR_002956473.1:n.2626_2627insGATGAATCAAAATTCAATATG (GATAD1)
XR_002956474.1:n.2543_2544insGATGAATCAAAATTCAATATG (GATAD1)
XR_242246.5:n.3256_3257insCATATTGAATTTTGATTCATC (PEX1)
XR_927494.3:n.1320_1321insGATGAATCAAAATTCAATATG (GATAD1)
XR_927500.3:n.1317_1318insGATGAATCAAAATTCAATATG (GATAD1)
XR_927503.3:n.1251_1252insGATGAATCAAAATTCAATATG (GATAD1)
NM_000466.3:c.3209_3210insCATATTGAATTTTGATTCATC (PEX1) MANE Select	NP_000457.1:p.Asp1070_Gly1071insIleLeuAsnPheAspSerSer
NM_001282677.2:c.3038_3039insCATATTGAATTTTGATTCATC (PEX1)	NP_001269606.1:p.Asp1013_Gly1014insIleLeuAsnPheAspSerSer
NM_001282678.2:c.2585_2586insCATATTGAATTTTGATTCATC (PEX1)	NP_001269607.1:p.Asp862_Gly863insIleLeuAsnPheAspSerSer