Canonical Allele Identifier: CA1104487789

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791522602
• gnomAD v3: 7-92494256-T-TC
• gnomAD v4: 7-92494256-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494256_92494257insC , CM000669.2:g.92494256_92494257insC	GRCh38
NC_000007.13:g.92123570_92123571insC , CM000669.1:g.92123570_92123571insC	GRCh37
NC_000007.12:g.91961506_91961507insC	NCBI36
NG_008341.1:g.39275_39276insG
NG_008341.2:g.39275_39276insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+36_3030+37insG (PEX1) MANE Select	ENSP00000248633.4:n.3030+36_3030+37insG
ENST00000248633.8:c.3030+36_3030+37insG (PEX1)	ENSP00000248633.4:n.3030+36_3030+37insG
ENST00000428214.5:c.2859+36_2859+37insG (PEX1)	ENSP00000394413.1:n.2859+36_2859+37insG
ENST00000438045.5:c.2064+36_2064+37insG (PEX1)	ENSP00000410438.1:n.2064+36_2064+37insG
ENST00000484913.5:n.3069+36_3069+37insG (PEX1)
ENST00000496420.5:n.2958_2959insG (PEX1)
NM_000466.2:c.3030+36_3030+37insG (PEX1)	NP_000457.1:n.3030+36_3030+37insG
NM_001282677.1:c.2859+36_2859+37insG (PEX1)	NP_001269606.1:n.2859+36_2859+37insG
NM_001282678.1:c.2406+36_2406+37insG (PEX1)	NP_001269607.1:n.2406+36_2406+37insG
XM_005250433.3:c.1281+36_1281+37insG (PEX1)	XP_005250490.1:n.1281+36_1281+37insG
XR_242246.3:n.3126+36_3126+37insG (PEX1)
XM_017012319.2:c.1281+36_1281+37insG (PEX1)	XP_016867808.1:n.1281+36_1281+37insG
XR_001744808.2:n.2057+36_2057+37insG (PEX1)
XR_001744843.2:n.5225_5226insC (GATAD1)
XR_242246.5:n.3077+36_3077+37insG (PEX1)
XR_927494.3:n.4076_4077insC (GATAD1)
XR_927503.3:n.4007_4008insC (GATAD1)
NM_000466.3:c.3030+36_3030+37insG (PEX1) MANE Select	NP_000457.1:n.3030+36_3030+37insG
NM_001282677.2:c.2859+36_2859+37insG (PEX1)	NP_001269606.1:n.2859+36_2859+37insG
NM_001282678.2:c.2406+36_2406+37insG (PEX1)	NP_001269607.1:n.2406+36_2406+37insG