Canonical Allele Identifier: CA1795350496

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983153_76983156delinsTAGG , CM000670.2:g.76983153_76983156delinsTAGG	GRCh38
NC_000008.10:g.77895389_77895392delinsTAGG , CM000670.1:g.77895389_77895392delinsTAGG	GRCh37
NC_000008.9:g.78057944_78057947delinsTAGG	NCBI36
NG_008371.1:g.22133_22136delinsCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.*105_*108delinsCCTA MANE Select	ENSP00000349543.4:n.*105_*108delinsCCTA
ENST00000357039.8:c.*105_*108delinsCCTA	ENSP00000349543.4:n.*105_*108delinsCCTA
ENST00000520103.5:c.*105_*108delinsCCTA	ENSP00000428590.1:n.*105_*108delinsCCTA
ENST00000522527.5:c.*105_*108delinsCCTA	ENSP00000428638.1:n.*105_*108delinsCCTA
NM_000318.2:c.*105_*108delinsCCTA	NP_000309.1:n.*105_*108delinsCCTA
NM_001079867.1:c.*105_*108delinsCCTA	NP_001073336.1:n.*105_*108delinsCCTA
NM_001172086.1:c.*105_*108delinsCCTA	NP_001165557.1:n.*105_*108delinsCCTA
NM_001172087.1:c.*105_*108delinsCCTA	NP_001165558.1:n.*105_*108delinsCCTA
NM_000318.3:c.*105_*108delinsCCTA MANE Select	NP_000309.2:n.*105_*108delinsCCTA
NM_001079867.2:c.*105_*108delinsCCTA	NP_001073336.2:n.*105_*108delinsCCTA
NM_001172086.2:c.*105_*108delinsCCTA	NP_001165557.2:n.*105_*108delinsCCTA
NM_001172087.2:c.*105_*108delinsCCTA	NP_001165558.2:n.*105_*108delinsCCTA