Canonical Allele Identifier: CA1725927038

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489779_92489780delinsCT , CM000669.2:g.92489779_92489780delinsCT GRCh38
NC_000007.13:g.92119093_92119094delinsCT , CM000669.1:g.92119093_92119094delinsCT GRCh37
NC_000007.12:g.91957029_91957030delinsCT NCBI36
NG_008341.1:g.43752_43753delinsAG
NG_008341.2:g.43752_43753delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3570_3571delinsAG (PEX1) MANE Select ENSP00000248633.4:p.Gln1190=
ENST00000248633.8:c.3570_3571delinsAG (PEX1) ENSP00000248633.4:p.Gln1190=
ENST00000428214.5:n.3399_3400delinsAG (PEX1) ENSP00000394413.1:p.Gln1133=
ENST00000438045.5:c.2604_2605delinsAG (PEX1) ENSP00000410438.1:p.Gln868=
ENST00000469417.1:n.467_468delinsAG (PEX1)
ENST00000477342.1:n.15_16delinsAG (PEX1)
ENST00000484913.5:n.3609_3610delinsAG (PEX1)
ENST00000496420.5:n.4625_4626delinsAG (PEX1)
NM_000466.2:c.3570_3571delinsAG (PEX1) NP_000457.1:p.Gln1190=
NM_001282677.1:c.3399_3400delinsAG (PEX1) NP_001269606.1:p.Gln1133=
NM_001282678.1:c.2946_2947delinsAG (PEX1) NP_001269607.1:p.Gln982=
XM_005250433.3:c.1821_1822delinsAG (PEX1) XP_005250490.1:p.Gln607=
XR_242246.3:n.3666_3667delinsAG (PEX1)
XR_927494.1:n.1036-1464_1036-1463delinsCT (GATAD1)
XR_927495.1:n.1036-307_1036-306delinsCT (GATAD1)
XR_927496.1:n.1041-1464_1041-1463delinsCT (GATAD1)
XR_927497.1:n.1036-307_1036-306delinsCT (GATAD1)
XR_927498.1:n.1124-1464_1124-1463delinsCT (GATAD1)
XR_927500.1:n.1033-1464_1033-1463delinsCT (GATAD1)
XR_927502.1:n.1033-307_1033-306delinsCT (GATAD1)
XR_927503.1:n.967-1464_967-1463delinsCT (GATAD1)
XM_017012319.2:c.1821_1822delinsAG (PEX1) XP_016867808.1:p.Gln607=
XR_001744808.2:n.2597_2598delinsAG (PEX1)
XR_001744842.2:n.2281-1464_2281-1463delinsCT (GATAD1)
XR_001744843.2:n.2212-1464_2212-1463delinsCT (GATAD1)
XR_002956472.1:n.2281-307_2281-306delinsCT (GATAD1)
XR_002956473.1:n.2369-1464_2369-1463delinsCT (GATAD1)
XR_002956474.1:n.2286-1464_2286-1463delinsCT (GATAD1)
XR_242246.5:n.3617_3618delinsAG (PEX1)
XR_927494.3:n.1063-1464_1063-1463delinsCT (GATAD1)
XR_927500.3:n.1060-1464_1060-1463delinsCT (GATAD1)
XR_927503.3:n.994-1464_994-1463delinsCT (GATAD1)
NM_000466.3:c.3570_3571delinsAG (PEX1) MANE Select NP_000457.1:p.Gln1190=
NM_001282677.2:c.3399_3400delinsAG (PEX1) NP_001269606.1:p.Gln1133=
NM_001282678.2:c.2946_2947delinsAG (PEX1) NP_001269607.1:p.Gln982=