Canonical Allele Identifier: CA1795350826

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983340_76983345delinsCAAGTA , CM000670.2:g.76983340_76983345delinsCAAGTA	GRCh38
NC_000008.10:g.77895576_77895581delinsCAAGTA , CM000670.1:g.77895576_77895581delinsCAAGTA	GRCh37
NC_000008.9:g.78058131_78058136delinsCAAGTA	NCBI36
NG_008371.1:g.21944_21949delinsTACTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.834_839delinsTACTTG MANE Select	ENSP00000349543.4:p.Phe278=
ENST00000357039.8:c.834_839delinsTACTTG	ENSP00000349543.4:p.Phe278=
ENST00000520103.5:c.834_839delinsTACTTG	ENSP00000428590.1:p.Phe278=
ENST00000522527.5:c.834_839delinsTACTTG	ENSP00000428638.1:p.Phe278=
NM_000318.2:c.834_839delinsTACTTG	NP_000309.1:p.Phe278=
NM_001079867.1:c.834_839delinsTACTTG	NP_001073336.1:p.Phe278=
NM_001172086.1:c.834_839delinsTACTTG	NP_001165557.1:p.Phe278=
NM_001172087.1:c.834_839delinsTACTTG	NP_001165558.1:p.Phe278=
NM_000318.3:c.834_839delinsTACTTG MANE Select	NP_000309.2:p.Phe278=
NM_001079867.2:c.834_839delinsTACTTG	NP_001073336.2:p.Phe278=
NM_001172086.2:c.834_839delinsTACTTG	NP_001165557.2:p.Phe278=
NM_001172087.2:c.834_839delinsTACTTG	NP_001165558.2:p.Phe278=