Canonical Allele Identifier: CA1725927033

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489776_92489777delinsGT , CM000669.2:g.92489776_92489777delinsGT GRCh38
NC_000007.13:g.92119090_92119091delinsGT , CM000669.1:g.92119090_92119091delinsGT GRCh37
NC_000007.12:g.91957026_91957027delinsGT NCBI36
NG_008341.1:g.43755_43756delinsAC
NG_008341.2:g.43755_43756delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3573_3574delinsAC (PEX1) MANE Select ENSP00000248633.4:p.Glu1191=
ENST00000248633.8:c.3573_3574delinsAC (PEX1) ENSP00000248633.4:p.Glu1191=
ENST00000428214.5:n.3402_3403delinsAC (PEX1) ENSP00000394413.1:p.Glu1134=
ENST00000438045.5:c.2607_2608delinsAC (PEX1) ENSP00000410438.1:p.Glu869=
ENST00000469417.1:n.470_471delinsAC (PEX1)
ENST00000477342.1:n.18_19delinsAC (PEX1)
ENST00000484913.5:n.3612_3613delinsAC (PEX1)
ENST00000496420.5:n.4628_4629delinsAC (PEX1)
NM_000466.2:c.3573_3574delinsAC (PEX1) NP_000457.1:p.Glu1191=
NM_001282677.1:c.3402_3403delinsAC (PEX1) NP_001269606.1:p.Glu1134=
NM_001282678.1:c.2949_2950delinsAC (PEX1) NP_001269607.1:p.Glu983=
XM_005250433.3:c.1824_1825delinsAC (PEX1) XP_005250490.1:p.Glu608=
XR_242246.3:n.3669_3670delinsAC (PEX1)
XR_927494.1:n.1036-1467_1036-1466delinsGT (GATAD1)
XR_927495.1:n.1036-310_1036-309delinsGT (GATAD1)
XR_927496.1:n.1041-1467_1041-1466delinsGT (GATAD1)
XR_927497.1:n.1036-310_1036-309delinsGT (GATAD1)
XR_927498.1:n.1124-1467_1124-1466delinsGT (GATAD1)
XR_927500.1:n.1033-1467_1033-1466delinsGT (GATAD1)
XR_927502.1:n.1033-310_1033-309delinsGT (GATAD1)
XR_927503.1:n.967-1467_967-1466delinsGT (GATAD1)
XM_017012319.2:c.1824_1825delinsAC (PEX1) XP_016867808.1:p.Glu608=
XR_001744808.2:n.2600_2601delinsAC (PEX1)
XR_001744842.2:n.2281-1467_2281-1466delinsGT (GATAD1)
XR_001744843.2:n.2212-1467_2212-1466delinsGT (GATAD1)
XR_002956472.1:n.2281-310_2281-309delinsGT (GATAD1)
XR_002956473.1:n.2369-1467_2369-1466delinsGT (GATAD1)
XR_002956474.1:n.2286-1467_2286-1466delinsGT (GATAD1)
XR_242246.5:n.3620_3621delinsAC (PEX1)
XR_927494.3:n.1063-1467_1063-1466delinsGT (GATAD1)
XR_927500.3:n.1060-1467_1060-1466delinsGT (GATAD1)
XR_927503.3:n.994-1467_994-1466delinsGT (GATAD1)
NM_000466.3:c.3573_3574delinsAC (PEX1) MANE Select NP_000457.1:p.Glu1191=
NM_001282677.2:c.3402_3403delinsAC (PEX1) NP_001269606.1:p.Glu1134=
NM_001282678.2:c.2949_2950delinsAC (PEX1) NP_001269607.1:p.Glu983=