Canonical Allele Identifier: CA1725930699

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791502920
• gnomAD v4: 7-92493943-ATTCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493944_92493948del , CM000669.2:g.92493944_92493948del	GRCh38
NC_000007.13:g.92123258_92123262del , CM000669.1:g.92123258_92123262del	GRCh37
NC_000007.12:g.91961194_91961198del	NCBI36
NG_008341.1:g.39584_39588del
NG_008341.2:g.39584_39588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+345_3030+349del (PEX1) MANE Select	ENSP00000248633.4:n.3030+345_3030+349del
ENST00000248633.8:c.3030+345_3030+349del (PEX1)	ENSP00000248633.4:n.3030+345_3030+349del
ENST00000428214.5:c.2859+345_2859+349del (PEX1)	ENSP00000394413.1:n.2859+345_2859+349del
ENST00000438045.5:c.2064+345_2064+349del (PEX1)	ENSP00000410438.1:n.2064+345_2064+349del
ENST00000484913.5:n.3069+345_3069+349del (PEX1)
ENST00000496420.5:n.3267_3271del (PEX1)
NM_000466.2:c.3030+345_3030+349del (PEX1)	NP_000457.1:n.3030+345_3030+349del
NM_001282677.1:c.2859+345_2859+349del (PEX1)	NP_001269606.1:n.2859+345_2859+349del
NM_001282678.1:c.2406+345_2406+349del (PEX1)	NP_001269607.1:n.2406+345_2406+349del
XM_005250433.3:c.1281+345_1281+349del (PEX1)	XP_005250490.1:n.1281+345_1281+349del
XR_242246.3:n.3126+345_3126+349del (PEX1)
XM_017012319.2:c.1281+345_1281+349del (PEX1)	XP_016867808.1:n.1281+345_1281+349del
XR_001744808.2:n.2057+345_2057+349del (PEX1)
XR_001744843.2:n.4913_4917del (GATAD1)
XR_242246.5:n.3077+345_3077+349del (PEX1)
XR_927494.3:n.3764_3768del (GATAD1)
XR_927503.3:n.3695_3699del (GATAD1)
NM_000466.3:c.3030+345_3030+349del (PEX1) MANE Select	NP_000457.1:n.3030+345_3030+349del
NM_001282677.2:c.2859+345_2859+349del (PEX1)	NP_001269606.1:n.2859+345_2859+349del
NM_001282678.2:c.2406+345_2406+349del (PEX1)	NP_001269607.1:n.2406+345_2406+349del