Canonical Allele Identifier: CA1725930660

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791499511
• gnomAD v4: 7-92493911-TTATCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493915_92493920del , CM000669.2:g.92493915_92493920del	GRCh38
NC_000007.13:g.92123229_92123234del , CM000669.1:g.92123229_92123234del	GRCh37
NC_000007.12:g.91961165_91961170del	NCBI36
NG_008341.1:g.39615_39620del
NG_008341.2:g.39615_39620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+376_3030+381del (PEX1) MANE Select	ENSP00000248633.4:n.3030+376_3030+381del
ENST00000248633.8:c.3030+376_3030+381del (PEX1)	ENSP00000248633.4:n.3030+376_3030+381del
ENST00000428214.5:c.2859+376_2859+381del (PEX1)	ENSP00000394413.1:n.2859+376_2859+381del
ENST00000438045.5:c.2064+376_2064+381del (PEX1)	ENSP00000410438.1:n.2064+376_2064+381del
ENST00000484913.5:n.3069+376_3069+381del (PEX1)
ENST00000496420.5:n.3298_3303del (PEX1)
NM_000466.2:c.3030+376_3030+381del (PEX1)	NP_000457.1:n.3030+376_3030+381del
NM_001282677.1:c.2859+376_2859+381del (PEX1)	NP_001269606.1:n.2859+376_2859+381del
NM_001282678.1:c.2406+376_2406+381del (PEX1)	NP_001269607.1:n.2406+376_2406+381del
XM_005250433.3:c.1281+376_1281+381del (PEX1)	XP_005250490.1:n.1281+376_1281+381del
XR_242246.3:n.3126+376_3126+381del (PEX1)
XM_017012319.2:c.1281+376_1281+381del (PEX1)	XP_016867808.1:n.1281+376_1281+381del
XR_001744808.2:n.2057+376_2057+381del (PEX1)
XR_001744843.2:n.4884_4889del (GATAD1)
XR_242246.5:n.3077+376_3077+381del (PEX1)
XR_927494.3:n.3735_3740del (GATAD1)
XR_927503.3:n.3666_3671del (GATAD1)
NM_000466.3:c.3030+376_3030+381del (PEX1) MANE Select	NP_000457.1:n.3030+376_3030+381del
NM_001282677.2:c.2859+376_2859+381del (PEX1)	NP_001269606.1:n.2859+376_2859+381del
NM_001282678.2:c.2406+376_2406+381del (PEX1)	NP_001269607.1:n.2406+376_2406+381del