Canonical Allele Identifier: CA2540320790

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517722_92517723insGG , CM000669.2:g.92517722_92517723insGG	GRCh38
NC_000007.13:g.92147036_92147037insGG , CM000669.1:g.92147036_92147037insGG	GRCh37
NC_000007.12:g.91984972_91984973insGG	NCBI36
NG_008341.1:g.15809_15810insCC
NG_008341.2:g.15809_15810insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.792_793insCC MANE Select	ENSP00000248633.4:p.Trp265ProfsTer4
ENST00000248633.8:c.792_793insCC	ENSP00000248633.4:p.Trp265ProfsTer4
ENST00000428214.5:c.792_793insCC	ENSP00000394413.1:p.Trp265ProfsTer4
ENST00000438045.5:c.274-3756_274-3755insCC	ENSP00000410438.1:n.274-3756_274-3755insCC
ENST00000484913.5:n.831_832insCC
NM_000466.2:c.792_793insCC	NP_000457.1:p.Trp265ProfsTer4
NM_001282677.1:c.792_793insCC	NP_001269606.1:p.Trp265ProfsTer4
NM_001282678.1:c.168_169insCC	NP_001269607.1:p.Trp57ProfsTer4
XR_242246.3:n.888_889insCC
XR_242246.5:n.839_840insCC
NM_000466.3:c.792_793insCC MANE Select	NP_000457.1:p.Trp265ProfsTer4
NM_001282677.2:c.792_793insCC	NP_001269606.1:p.Trp265ProfsTer4
NM_001282678.2:c.168_169insCC	NP_001269607.1:p.Trp57ProfsTer4