Canonical Allele Identifier: CA1795351722

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983960_76983961delinsAT , CM000670.2:g.76983960_76983961delinsAT	GRCh38
NC_000008.10:g.77896196_77896197delinsAT , CM000670.1:g.77896196_77896197delinsAT	GRCh37
NC_000008.9:g.78058751_78058752delinsAT	NCBI36
NG_008371.1:g.21328_21329delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.218_219delinsAT MANE Select	ENSP00000349543.4:p.Asn73=
ENST00000357039.8:c.218_219delinsAT	ENSP00000349543.4:p.Asn73=
ENST00000518986.5:c.218_219delinsAT	ENSP00000429304.1:p.Asn73=
ENST00000520103.5:c.218_219delinsAT	ENSP00000428590.1:p.Asn73=
ENST00000522527.5:c.218_219delinsAT	ENSP00000428638.1:p.Asn73=
NM_000318.2:c.218_219delinsAT	NP_000309.1:p.Asn73=
NM_001079867.1:c.218_219delinsAT	NP_001073336.1:p.Asn73=
NM_001172086.1:c.218_219delinsAT	NP_001165557.1:p.Asn73=
NM_001172087.1:c.218_219delinsAT	NP_001165558.1:p.Asn73=
NM_000318.3:c.218_219delinsAT MANE Select	NP_000309.2:p.Asn73=
NM_001079867.2:c.218_219delinsAT	NP_001073336.2:p.Asn73=
NM_001172086.2:c.218_219delinsAT	NP_001165557.2:p.Asn73=
NM_001172087.2:c.218_219delinsAT	NP_001165558.2:p.Asn73=