Canonical Allele Identifier: CA1725938983

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504842_92504849delinsATCCACAC , CM000669.2:g.92504842_92504849delinsATCCACAC	GRCh38
NC_000007.13:g.92134156_92134163delinsATCCACAC , CM000669.1:g.92134156_92134163delinsATCCACAC	GRCh37
NC_000007.12:g.91972092_91972099delinsATCCACAC	NCBI36
NG_008341.1:g.28683_28690delinsGTGTGGAT
NG_008341.2:g.28683_28690delinsGTGTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1954_1961delinsGTGTGGAT MANE Select	ENSP00000248633.4:p.Val652=
ENST00000248633.8:c.1954_1961delinsGTGTGGAT	ENSP00000248633.4:p.Val652=
ENST00000428214.5:c.1900+1399_1900+1406delinsGTGTGGAT	ENSP00000394413.1:n.1900+1399_1900+1406delinsGTGTGGAT
ENST00000438045.5:c.988_995delinsGTGTGGAT	ENSP00000410438.1:p.Val330=
ENST00000484913.5:n.1993_2000delinsGTGTGGAT
ENST00000496420.5:n.1630_1637delinsGTGTGGAT
NM_000466.2:c.1954_1961delinsGTGTGGAT	NP_000457.1:p.Val652=
NM_001282677.1:c.1900+1399_1900+1406delinsGTGTGGAT	NP_001269606.1:n.1900+1399_1900+1406delinsGTGTGGAT
NM_001282678.1:c.1330_1337delinsGTGTGGAT	NP_001269607.1:p.Val444=
XM_005250433.3:c.205_212delinsGTGTGGAT	XP_005250490.1:p.Val69=
XR_242246.3:n.2050_2057delinsGTGTGGAT
XM_017012319.2:c.205_212delinsGTGTGGAT	XP_016867808.1:p.Val69=
XR_001744808.2:n.981_988delinsGTGTGGAT
XR_242246.5:n.2001_2008delinsGTGTGGAT
NM_000466.3:c.1954_1961delinsGTGTGGAT MANE Select	NP_000457.1:p.Val652=
NM_001282677.2:c.1900+1399_1900+1406delinsGTGTGGAT	NP_001269606.1:n.1900+1399_1900+1406delinsGTGTGGAT
NM_001282678.2:c.1330_1337delinsGTGTGGAT	NP_001269607.1:p.Val444=