Canonical Allele Identifier: CA2687718968

Gene: PEX2

Linked Data

• gnomAD v4: 8-76983973-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983974del , CM000670.2:g.76983974del	GRCh38
NC_000008.10:g.77896210del , CM000670.1:g.77896210del	GRCh37
NC_000008.9:g.78058765del	NCBI36
NG_008371.1:g.21315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.205del MANE Select	ENSP00000349543.4:p.Ile69SerfsTer13
ENST00000357039.8:c.205del	ENSP00000349543.4:p.Ile69SerfsTer13
ENST00000518986.5:c.205del	ENSP00000429304.1:p.Ile69SerfsTer13
ENST00000520103.5:c.205del	ENSP00000428590.1:p.Ile69SerfsTer13
ENST00000522527.5:c.205del	ENSP00000428638.1:p.Ile69SerfsTer13
NM_000318.2:c.205del	NP_000309.1:p.Ile69SerfsTer13
NM_001079867.1:c.205del	NP_001073336.1:p.Ile69SerfsTer13
NM_001172086.1:c.205del	NP_001165557.1:p.Ile69SerfsTer13
NM_001172087.1:c.205del	NP_001165558.1:p.Ile69SerfsTer13
NM_000318.3:c.205del MANE Select	NP_000309.2:p.Ile69SerfsTer13
NM_001079867.2:c.205del	NP_001073336.2:p.Ile69SerfsTer13
NM_001172086.2:c.205del	NP_001165557.2:p.Ile69SerfsTer13
NM_001172087.2:c.205del	NP_001165558.2:p.Ile69SerfsTer13