Canonical Allele Identifier: CA1104487826

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791525606
• gnomAD v3: 7-92494274-C-CAT
• gnomAD v4: 7-92494274-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494274_92494275insAT , CM000669.2:g.92494274_92494275insAT	GRCh38
NC_000007.13:g.92123588_92123589insAT , CM000669.1:g.92123588_92123589insAT	GRCh37
NC_000007.12:g.91961524_91961525insAT	NCBI36
NG_008341.1:g.39257_39258insAT
NG_008341.2:g.39257_39258insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+18_3030+19insAT (PEX1) MANE Select	ENSP00000248633.4:n.3030+18_3030+19insAT
ENST00000248633.8:c.3030+18_3030+19insAT (PEX1)	ENSP00000248633.4:n.3030+18_3030+19insAT
ENST00000428214.5:c.2859+18_2859+19insAT (PEX1)	ENSP00000394413.1:n.2859+18_2859+19insAT
ENST00000438045.5:c.2064+18_2064+19insAT (PEX1)	ENSP00000410438.1:n.2064+18_2064+19insAT
ENST00000484913.5:n.3069+18_3069+19insAT (PEX1)
ENST00000496420.5:n.2940_2941insAT (PEX1)
NM_000466.2:c.3030+18_3030+19insAT (PEX1)	NP_000457.1:n.3030+18_3030+19insAT
NM_001282677.1:c.2859+18_2859+19insAT (PEX1)	NP_001269606.1:n.2859+18_2859+19insAT
NM_001282678.1:c.2406+18_2406+19insAT (PEX1)	NP_001269607.1:n.2406+18_2406+19insAT
XM_005250433.3:c.1281+18_1281+19insAT (PEX1)	XP_005250490.1:n.1281+18_1281+19insAT
XR_242246.3:n.3126+18_3126+19insAT (PEX1)
XM_017012319.2:c.1281+18_1281+19insAT (PEX1)	XP_016867808.1:n.1281+18_1281+19insAT
XR_001744808.2:n.2057+18_2057+19insAT (PEX1)
XR_001744843.2:n.5243_5244insAT (GATAD1)
XR_242246.5:n.3077+18_3077+19insAT (PEX1)
XR_927494.3:n.4094_4095insAT (GATAD1)
XR_927503.3:n.4025_4026insAT (GATAD1)
NM_000466.3:c.3030+18_3030+19insAT (PEX1) MANE Select	NP_000457.1:n.3030+18_3030+19insAT
NM_001282677.2:c.2859+18_2859+19insAT (PEX1)	NP_001269606.1:n.2859+18_2859+19insAT
NM_001282678.2:c.2406+18_2406+19insAT (PEX1)	NP_001269607.1:n.2406+18_2406+19insAT