Canonical Allele Identifier: CA2564905833

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491494_92491495insTGGAGAATGTGG , CM000669.2:g.92491494_92491495insTGGAGAATGTGG	GRCh38
NC_000007.13:g.92120808_92120809insTGGAGAATGTGG , CM000669.1:g.92120808_92120809insTGGAGAATGTGG	GRCh37
NC_000007.12:g.91958744_91958745insTGGAGAATGTGG	NCBI36
NG_008341.1:g.42037_42038insCCACATTCTCCA
NG_008341.2:g.42037_42038insCCACATTCTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3215_3216insCCACATTCTCCA (PEX1) MANE Select	ENSP00000248633.4:p.Ser1072_Ser1073insHisIleLeuHis
ENST00000248633.8:c.3215_3216insCCACATTCTCCA (PEX1)	ENSP00000248633.4:p.Ser1072_Ser1073insHisIleLeuHis
ENST00000428214.5:c.3044_3045insCCACATTCTCCA (PEX1)	ENSP00000394413.1:p.Ser1015_Ser1016insHisIleLeuHis
ENST00000438045.5:c.2249_2250insCCACATTCTCCA (PEX1)	ENSP00000410438.1:p.Ser750_Ser751insHisIleLeuHis
ENST00000484913.5:n.3254_3255insCCACATTCTCCA (PEX1)
ENST00000496420.5:n.4270_4271insCCACATTCTCCA (PEX1)
NM_000466.2:c.3215_3216insCCACATTCTCCA (PEX1)	NP_000457.1:p.Ser1072_Ser1073insHisIleLeuHis
NM_001282677.1:c.3044_3045insCCACATTCTCCA (PEX1)	NP_001269606.1:p.Ser1015_Ser1016insHisIleLeuHis
NM_001282678.1:c.2591_2592insCCACATTCTCCA (PEX1)	NP_001269607.1:p.Ser864_Ser865insHisIleLeuHis
XM_005250433.3:c.1466_1467insCCACATTCTCCA (PEX1)	XP_005250490.1:p.Ser489_Ser490insHisIleLeuHis
XR_242246.3:n.3311_3312insCCACATTCTCCA (PEX1)
XM_017012319.2:c.1466_1467insCCACATTCTCCA (PEX1)	XP_016867808.1:p.Ser489_Ser490insHisIleLeuHis
XR_001744808.2:n.2242_2243insCCACATTCTCCA (PEX1)
XR_001744842.2:n.2532_2533insTGGAGAATGTGG (GATAD1)
XR_001744843.2:n.2463_2464insTGGAGAATGTGG (GATAD1)
XR_002956472.1:n.2589_2590insTGGAGAATGTGG (GATAD1)
XR_002956473.1:n.2620_2621insTGGAGAATGTGG (GATAD1)
XR_002956474.1:n.2537_2538insTGGAGAATGTGG (GATAD1)
XR_242246.5:n.3262_3263insCCACATTCTCCA (PEX1)
XR_927494.3:n.1314_1315insTGGAGAATGTGG (GATAD1)
XR_927500.3:n.1311_1312insTGGAGAATGTGG (GATAD1)
XR_927503.3:n.1245_1246insTGGAGAATGTGG (GATAD1)
NM_000466.3:c.3215_3216insCCACATTCTCCA (PEX1) MANE Select	NP_000457.1:p.Ser1072_Ser1073insHisIleLeuHis
NM_001282677.2:c.3044_3045insCCACATTCTCCA (PEX1)	NP_001269606.1:p.Ser1015_Ser1016insHisIleLeuHis
NM_001282678.2:c.2591_2592insCCACATTCTCCA (PEX1)	NP_001269607.1:p.Ser864_Ser865insHisIleLeuHis