Canonical Allele Identifier: CA1725930697

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493943_92493948delinsATTCAC , CM000669.2:g.92493943_92493948delinsATTCAC	GRCh38
NC_000007.13:g.92123257_92123262delinsATTCAC , CM000669.1:g.92123257_92123262delinsATTCAC	GRCh37
NC_000007.12:g.91961193_91961198delinsATTCAC	NCBI36
NG_008341.1:g.39584_39589delinsGTGAAT
NG_008341.2:g.39584_39589delinsGTGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+345_3030+350delinsGTGAAT (PEX1) MANE Select	ENSP00000248633.4:n.3030+345_3030+350delinsGTGAAT
ENST00000248633.8:c.3030+345_3030+350delinsGTGAAT (PEX1)	ENSP00000248633.4:n.3030+345_3030+350delinsGTGAAT
ENST00000428214.5:c.2859+345_2859+350delinsGTGAAT (PEX1)	ENSP00000394413.1:n.2859+345_2859+350delinsGTGAAT
ENST00000438045.5:c.2064+345_2064+350delinsGTGAAT (PEX1)	ENSP00000410438.1:n.2064+345_2064+350delinsGTGAAT
ENST00000484913.5:n.3069+345_3069+350delinsGTGAAT (PEX1)
ENST00000496420.5:n.3267_3272delinsGTGAAT (PEX1)
NM_000466.2:c.3030+345_3030+350delinsGTGAAT (PEX1)	NP_000457.1:n.3030+345_3030+350delinsGTGAAT
NM_001282677.1:c.2859+345_2859+350delinsGTGAAT (PEX1)	NP_001269606.1:n.2859+345_2859+350delinsGTGAAT
NM_001282678.1:c.2406+345_2406+350delinsGTGAAT (PEX1)	NP_001269607.1:n.2406+345_2406+350delinsGTGAAT
XM_005250433.3:c.1281+345_1281+350delinsGTGAAT (PEX1)	XP_005250490.1:n.1281+345_1281+350delinsGTGAAT
XR_242246.3:n.3126+345_3126+350delinsGTGAAT (PEX1)
XM_017012319.2:c.1281+345_1281+350delinsGTGAAT (PEX1)	XP_016867808.1:n.1281+345_1281+350delinsGTGAAT
XR_001744808.2:n.2057+345_2057+350delinsGTGAAT (PEX1)
XR_001744843.2:n.4912_4917delinsATTCAC (GATAD1)
XR_242246.5:n.3077+345_3077+350delinsGTGAAT (PEX1)
XR_927494.3:n.3763_3768delinsATTCAC (GATAD1)
XR_927503.3:n.3694_3699delinsATTCAC (GATAD1)
NM_000466.3:c.3030+345_3030+350delinsGTGAAT (PEX1) MANE Select	NP_000457.1:n.3030+345_3030+350delinsGTGAAT
NM_001282677.2:c.2859+345_2859+350delinsGTGAAT (PEX1)	NP_001269606.1:n.2859+345_2859+350delinsGTGAAT
NM_001282678.2:c.2406+345_2406+350delinsGTGAAT (PEX1)	NP_001269607.1:n.2406+345_2406+350delinsGTGAAT