Canonical Allele Identifier: CA1104487812

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791524481
• gnomAD v3: 7-92494265-TTTTGG-T
• gnomAD v4: 7-92494265-TTTTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494266_92494270del , CM000669.2:g.92494266_92494270del	GRCh38
NC_000007.13:g.92123580_92123584del , CM000669.1:g.92123580_92123584del	GRCh37
NC_000007.12:g.91961516_91961520del	NCBI36
NG_008341.1:g.39262_39266del
NG_008341.2:g.39262_39266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+23_3030+27del (PEX1) MANE Select	ENSP00000248633.4:n.3030+23_3030+27del
ENST00000248633.8:c.3030+23_3030+27del (PEX1)	ENSP00000248633.4:n.3030+23_3030+27del
ENST00000428214.5:c.2859+23_2859+27del (PEX1)	ENSP00000394413.1:n.2859+23_2859+27del
ENST00000438045.5:c.2064+23_2064+27del (PEX1)	ENSP00000410438.1:n.2064+23_2064+27del
ENST00000484913.5:n.3069+23_3069+27del (PEX1)
ENST00000496420.5:n.2945_2949del (PEX1)
NM_000466.2:c.3030+23_3030+27del (PEX1)	NP_000457.1:n.3030+23_3030+27del
NM_001282677.1:c.2859+23_2859+27del (PEX1)	NP_001269606.1:n.2859+23_2859+27del
NM_001282678.1:c.2406+23_2406+27del (PEX1)	NP_001269607.1:n.2406+23_2406+27del
XM_005250433.3:c.1281+23_1281+27del (PEX1)	XP_005250490.1:n.1281+23_1281+27del
XR_242246.3:n.3126+23_3126+27del (PEX1)
XM_017012319.2:c.1281+23_1281+27del (PEX1)	XP_016867808.1:n.1281+23_1281+27del
XR_001744808.2:n.2057+23_2057+27del (PEX1)
XR_001744843.2:n.5235_5239del (GATAD1)
XR_242246.5:n.3077+23_3077+27del (PEX1)
XR_927494.3:n.4086_4090del (GATAD1)
XR_927503.3:n.4017_4021del (GATAD1)
NM_000466.3:c.3030+23_3030+27del (PEX1) MANE Select	NP_000457.1:n.3030+23_3030+27del
NM_001282677.2:c.2859+23_2859+27del (PEX1)	NP_001269606.1:n.2859+23_2859+27del
NM_001282678.2:c.2406+23_2406+27del (PEX1)	NP_001269607.1:n.2406+23_2406+27del