Canonical Allele Identifier: CA1795351695

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983939_76983943delinsAACTG , CM000670.2:g.76983939_76983943delinsAACTG	GRCh38
NC_000008.10:g.77896175_77896179delinsAACTG , CM000670.1:g.77896175_77896179delinsAACTG	GRCh37
NC_000008.9:g.78058730_78058734delinsAACTG	NCBI36
NG_008371.1:g.21346_21350delinsCAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.236_240delinsCAGTT MANE Select	ENSP00000349543.4:p.Ser79=
ENST00000357039.8:c.236_240delinsCAGTT	ENSP00000349543.4:p.Ser79=
ENST00000518986.5:c.236_240delinsCAGTT	ENSP00000429304.1:p.Ser79=
ENST00000520103.5:c.236_240delinsCAGTT	ENSP00000428590.1:p.Ser79=
ENST00000522527.5:c.236_240delinsCAGTT	ENSP00000428638.1:p.Ser79=
NM_000318.2:c.236_240delinsCAGTT	NP_000309.1:p.Ser79=
NM_001079867.1:c.236_240delinsCAGTT	NP_001073336.1:p.Ser79=
NM_001172086.1:c.236_240delinsCAGTT	NP_001165557.1:p.Ser79=
NM_001172087.1:c.236_240delinsCAGTT	NP_001165558.1:p.Ser79=
NM_000318.3:c.236_240delinsCAGTT MANE Select	NP_000309.2:p.Ser79=
NM_001079867.2:c.236_240delinsCAGTT	NP_001073336.2:p.Ser79=
NM_001172086.2:c.236_240delinsCAGTT	NP_001165557.2:p.Ser79=
NM_001172087.2:c.236_240delinsCAGTT	NP_001165558.2:p.Ser79=