Canonical Allele Identifier: CA2578938308

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519026del , CM000669.2:g.92519026del	GRCh38
NC_000007.13:g.92148340del , CM000669.1:g.92148340del	GRCh37
NC_000007.12:g.91986276del	NCBI36
NG_008341.1:g.14507del
NG_008341.2:g.14507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.327del MANE Select	ENSP00000248633.4:p.Glu109AspfsTer23
ENST00000248633.8:c.327del	ENSP00000248633.4:p.Glu109AspfsTer23
ENST00000428214.5:c.327del	ENSP00000394413.1:p.Glu109AspfsTer23
ENST00000438045.5:c.273+3077del	ENSP00000410438.1:n.273+3077del
ENST00000484913.5:n.331del
NM_000466.2:c.327del	NP_000457.1:p.Glu109AspfsTer23
NM_001282677.1:c.327del	NP_001269606.1:p.Glu109AspfsTer23
NM_001282678.1:c.-333del	NP_001269607.1:n.-333del
XR_242246.3:n.423del
XR_242246.5:n.374del
NM_000466.3:c.327del MANE Select	NP_000457.1:p.Glu109AspfsTer23
NM_001282677.2:c.327del	NP_001269606.1:p.Glu109AspfsTer23
NM_001282678.2:c.-333del	NP_001269607.1:n.-333del