Canonical Allele Identifier: CA2683717776

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92493989-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493990_92493992del , CM000669.2:g.92493990_92493992del	GRCh38
NC_000007.13:g.92123304_92123306del , CM000669.1:g.92123304_92123306del	GRCh37
NC_000007.12:g.91961240_91961242del	NCBI36
NG_008341.1:g.39540_39542del
NG_008341.2:g.39540_39542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+301_3030+303del (PEX1) MANE Select	ENSP00000248633.4:n.3030+301_3030+303del
ENST00000248633.8:c.3030+301_3030+303del (PEX1)	ENSP00000248633.4:n.3030+301_3030+303del
ENST00000428214.5:c.2859+301_2859+303del (PEX1)	ENSP00000394413.1:n.2859+301_2859+303del
ENST00000438045.5:c.2064+301_2064+303del (PEX1)	ENSP00000410438.1:n.2064+301_2064+303del
ENST00000484913.5:n.3069+301_3069+303del (PEX1)
ENST00000496420.5:n.3223_3225del (PEX1)
NM_000466.2:c.3030+301_3030+303del (PEX1)	NP_000457.1:n.3030+301_3030+303del
NM_001282677.1:c.2859+301_2859+303del (PEX1)	NP_001269606.1:n.2859+301_2859+303del
NM_001282678.1:c.2406+301_2406+303del (PEX1)	NP_001269607.1:n.2406+301_2406+303del
XM_005250433.3:c.1281+301_1281+303del (PEX1)	XP_005250490.1:n.1281+301_1281+303del
XR_242246.3:n.3126+301_3126+303del (PEX1)
XM_017012319.2:c.1281+301_1281+303del (PEX1)	XP_016867808.1:n.1281+301_1281+303del
XR_001744808.2:n.2057+301_2057+303del (PEX1)
XR_001744843.2:n.4959_4961del (GATAD1)
XR_242246.5:n.3077+301_3077+303del (PEX1)
XR_927494.3:n.3810_3812del (GATAD1)
XR_927503.3:n.3741_3743del (GATAD1)
NM_000466.3:c.3030+301_3030+303del (PEX1) MANE Select	NP_000457.1:n.3030+301_3030+303del
NM_001282677.2:c.2859+301_2859+303del (PEX1)	NP_001269606.1:n.2859+301_2859+303del
NM_001282678.2:c.2406+301_2406+303del (PEX1)	NP_001269607.1:n.2406+301_2406+303del