Canonical Allele Identifier: CA1104487809

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791523735
• gnomAD v3: 7-92494263-G-GTCGCC
• gnomAD v4: 7-92494263-G-GTCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494263_92494264insTCGCC , CM000669.2:g.92494263_92494264insTCGCC	GRCh38
NC_000007.13:g.92123577_92123578insTCGCC , CM000669.1:g.92123577_92123578insTCGCC	GRCh37
NC_000007.12:g.91961513_91961514insTCGCC	NCBI36
NG_008341.1:g.39268_39269insGGCGA
NG_008341.2:g.39268_39269insGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+29_3030+30insGGCGA (PEX1) MANE Select	ENSP00000248633.4:n.3030+29_3030+30insGGCGA
ENST00000248633.8:c.3030+29_3030+30insGGCGA (PEX1)	ENSP00000248633.4:n.3030+29_3030+30insGGCGA
ENST00000428214.5:c.2859+29_2859+30insGGCGA (PEX1)	ENSP00000394413.1:n.2859+29_2859+30insGGCGA
ENST00000438045.5:c.2064+29_2064+30insGGCGA (PEX1)	ENSP00000410438.1:n.2064+29_2064+30insGGCGA
ENST00000484913.5:n.3069+29_3069+30insGGCGA (PEX1)
ENST00000496420.5:n.2951_2952insGGCGA (PEX1)
NM_000466.2:c.3030+29_3030+30insGGCGA (PEX1)	NP_000457.1:n.3030+29_3030+30insGGCGA
NM_001282677.1:c.2859+29_2859+30insGGCGA (PEX1)	NP_001269606.1:n.2859+29_2859+30insGGCGA
NM_001282678.1:c.2406+29_2406+30insGGCGA (PEX1)	NP_001269607.1:n.2406+29_2406+30insGGCGA
XM_005250433.3:c.1281+29_1281+30insGGCGA (PEX1)	XP_005250490.1:n.1281+29_1281+30insGGCGA
XR_242246.3:n.3126+29_3126+30insGGCGA (PEX1)
XM_017012319.2:c.1281+29_1281+30insGGCGA (PEX1)	XP_016867808.1:n.1281+29_1281+30insGGCGA
XR_001744808.2:n.2057+29_2057+30insGGCGA (PEX1)
XR_001744843.2:n.5232_5233insTCGCC (GATAD1)
XR_242246.5:n.3077+29_3077+30insGGCGA (PEX1)
XR_927494.3:n.4083_4084insTCGCC (GATAD1)
XR_927503.3:n.4014_4015insTCGCC (GATAD1)
NM_000466.3:c.3030+29_3030+30insGGCGA (PEX1) MANE Select	NP_000457.1:n.3030+29_3030+30insGGCGA
NM_001282677.2:c.2859+29_2859+30insGGCGA (PEX1)	NP_001269606.1:n.2859+29_2859+30insGGCGA
NM_001282678.2:c.2406+29_2406+30insGGCGA (PEX1)	NP_001269607.1:n.2406+29_2406+30insGGCGA