Canonical Allele Identifier: CA1725926997

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489766_92489767delinsTG , CM000669.2:g.92489766_92489767delinsTG	GRCh38
NC_000007.13:g.92119080_92119081delinsTG , CM000669.1:g.92119080_92119081delinsTG	GRCh37
NC_000007.12:g.91957016_91957017delinsTG	NCBI36
NG_008341.1:g.43765_43766delinsCA
NG_008341.2:g.43765_43766delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3583_3584delinsCA (PEX1) MANE Select	ENSP00000248633.4:p.Gln1195=
ENST00000248633.8:c.3583_3584delinsCA (PEX1)	ENSP00000248633.4:p.Gln1195=
ENST00000428214.5:c.3412_3413delinsCA (PEX1)	ENSP00000394413.1:p.Gln1138=
ENST00000438045.5:c.2617_2618delinsCA (PEX1)	ENSP00000410438.1:p.Gln873=
ENST00000469417.1:n.480_481delinsCA (PEX1)
ENST00000477342.1:n.28_29delinsCA (PEX1)
ENST00000484913.5:n.3622_3623delinsCA (PEX1)
ENST00000496420.5:n.4638_4639delinsCA (PEX1)
NM_000466.2:c.3583_3584delinsCA (PEX1)	NP_000457.1:p.Gln1195=
NM_001282677.1:c.3412_3413delinsCA (PEX1)	NP_001269606.1:p.Gln1138=
NM_001282678.1:c.2959_2960delinsCA (PEX1)	NP_001269607.1:p.Gln987=
XM_005250433.3:c.1834_1835delinsCA (PEX1)	XP_005250490.1:p.Gln612=
XR_242246.3:n.3679_3680delinsCA (PEX1)
XR_927494.1:n.1036-1477_1036-1476delinsTG (GATAD1)
XR_927495.1:n.1036-320_1036-319delinsTG (GATAD1)
XR_927496.1:n.1041-1477_1041-1476delinsTG (GATAD1)
XR_927497.1:n.1036-320_1036-319delinsTG (GATAD1)
XR_927498.1:n.1124-1477_1124-1476delinsTG (GATAD1)
XR_927500.1:n.1033-1477_1033-1476delinsTG (GATAD1)
XR_927502.1:n.1033-320_1033-319delinsTG (GATAD1)
XR_927503.1:n.967-1477_967-1476delinsTG (GATAD1)
XM_017012319.2:c.1834_1835delinsCA (PEX1)	XP_016867808.1:p.Gln612=
XR_001744808.2:n.2610_2611delinsCA (PEX1)
XR_001744842.2:n.2281-1477_2281-1476delinsTG (GATAD1)
XR_001744843.2:n.2212-1477_2212-1476delinsTG (GATAD1)
XR_002956472.1:n.2281-320_2281-319delinsTG (GATAD1)
XR_002956473.1:n.2369-1477_2369-1476delinsTG (GATAD1)
XR_002956474.1:n.2286-1477_2286-1476delinsTG (GATAD1)
XR_242246.5:n.3630_3631delinsCA (PEX1)
XR_927494.3:n.1063-1477_1063-1476delinsTG (GATAD1)
XR_927500.3:n.1060-1477_1060-1476delinsTG (GATAD1)
XR_927503.3:n.994-1477_994-1476delinsTG (GATAD1)
NM_000466.3:c.3583_3584delinsCA (PEX1) MANE Select	NP_000457.1:p.Gln1195=
NM_001282677.2:c.3412_3413delinsCA (PEX1)	NP_001269606.1:p.Gln1138=
NM_001282678.2:c.2959_2960delinsCA (PEX1)	NP_001269607.1:p.Gln987=