Canonical Allele Identifier: CA1725927081

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489802_92489811delinsTCTTGTGAAG , CM000669.2:g.92489802_92489811delinsTCTTGTGAAG GRCh38
NC_000007.13:g.92119116_92119125delinsTCTTGTGAAG , CM000669.1:g.92119116_92119125delinsTCTTGTGAAG GRCh37
NC_000007.12:g.91957052_91957061delinsTCTTGTGAAG NCBI36
NG_008341.1:g.43721_43730delinsCTTCACAAGA
NG_008341.2:g.43721_43730delinsCTTCACAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3539_3548delinsCTTCACAAGA (PEX1) MANE Select ENSP00000248633.4:p.Ala1180=
ENST00000248633.8:c.3539_3548delinsCTTCACAAGA (PEX1) ENSP00000248633.4:p.Ala1180=
ENST00000428214.5:c.3368_3377delinsCTTCACAAGA (PEX1) ENSP00000394413.1:p.Ala1123=
ENST00000438045.5:c.2573_2582delinsCTTCACAAGA (PEX1) ENSP00000410438.1:p.Ala858=
ENST00000469417.1:n.436_445delinsCTTCACAAGA (PEX1)
ENST00000484913.5:n.3578_3587delinsCTTCACAAGA (PEX1)
ENST00000496420.5:n.4594_4603delinsCTTCACAAGA (PEX1)
NM_000466.2:c.3539_3548delinsCTTCACAAGA (PEX1) NP_000457.1:p.Ala1180=
NM_001282677.1:c.3368_3377delinsCTTCACAAGA (PEX1) NP_001269606.1:p.Ala1123=
NM_001282678.1:c.2915_2924delinsCTTCACAAGA (PEX1) NP_001269607.1:p.Ala972=
XM_005250433.3:c.1790_1799delinsCTTCACAAGA (PEX1) XP_005250490.1:p.Ala597=
XR_242246.3:n.3635_3644delinsCTTCACAAGA (PEX1)
XR_927494.1:n.1036-1441_1036-1432delinsTCTTGTGAAG (GATAD1)
XR_927495.1:n.1036-284_1036-275delinsTCTTGTGAAG (GATAD1)
XR_927496.1:n.1041-1441_1041-1432delinsTCTTGTGAAG (GATAD1)
XR_927497.1:n.1036-284_1036-275delinsTCTTGTGAAG (GATAD1)
XR_927498.1:n.1124-1441_1124-1432delinsTCTTGTGAAG (GATAD1)
XR_927500.1:n.1033-1441_1033-1432delinsTCTTGTGAAG (GATAD1)
XR_927502.1:n.1033-284_1033-275delinsTCTTGTGAAG (GATAD1)
XR_927503.1:n.967-1441_967-1432delinsTCTTGTGAAG (GATAD1)
XM_017012319.2:c.1790_1799delinsCTTCACAAGA (PEX1) XP_016867808.1:p.Ala597=
XR_001744808.2:n.2566_2575delinsCTTCACAAGA (PEX1)
XR_001744842.2:n.2281-1441_2281-1432delinsTCTTGTGAAG (GATAD1)
XR_001744843.2:n.2212-1441_2212-1432delinsTCTTGTGAAG (GATAD1)
XR_002956472.1:n.2281-284_2281-275delinsTCTTGTGAAG (GATAD1)
XR_002956473.1:n.2369-1441_2369-1432delinsTCTTGTGAAG (GATAD1)
XR_002956474.1:n.2286-1441_2286-1432delinsTCTTGTGAAG (GATAD1)
XR_242246.5:n.3586_3595delinsCTTCACAAGA (PEX1)
XR_927494.3:n.1063-1441_1063-1432delinsTCTTGTGAAG (GATAD1)
XR_927500.3:n.1060-1441_1060-1432delinsTCTTGTGAAG (GATAD1)
XR_927503.3:n.994-1441_994-1432delinsTCTTGTGAAG (GATAD1)
NM_000466.3:c.3539_3548delinsCTTCACAAGA (PEX1) MANE Select NP_000457.1:p.Ala1180=
NM_001282677.2:c.3368_3377delinsCTTCACAAGA (PEX1) NP_001269606.1:p.Ala1123=
NM_001282678.2:c.2915_2924delinsCTTCACAAGA (PEX1) NP_001269607.1:p.Ala972=