Canonical Allele Identifier: CA2683716778

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489609_92489610insTCT , CM000669.2:g.92489609_92489610insTCT GRCh38
NC_000007.13:g.92118923_92118924insTCT , CM000669.1:g.92118923_92118924insTCT GRCh37
NC_000007.12:g.91956859_91956860insTCT NCBI36
NG_008341.1:g.43923_43924insGAA
NG_008341.2:g.43923_43924insGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3636+105_3636+106insGAA (PEX1) MANE Select ENSP00000248633.4:n.3636+105_3636+106insG...
ENST00000248633.8:c.3636+105_3636+106insGAA (PEX1) ENSP00000248633.4:n.3636+105_3636+106insG...
ENST00000428214.5:c.3465+105_3465+106insGAA (PEX1) ENSP00000394413.1:n.3465+105_3465+106insG...
ENST00000438045.5:c.2670+105_2670+106insGAA (PEX1) ENSP00000410438.1:n.2670+105_2670+106insG...
ENST00000469417.1:n.533+105_533+106insGAA (PEX1)
ENST00000477342.1:n.186_187insGAA (PEX1)
ENST00000484913.5:n.3675+105_3675+106insGAA (PEX1)
ENST00000496420.5:n.4686+110_4686+111insGAA (PEX1)
NM_000466.2:c.3636+105_3636+106insGAA (PEX1) NP_000457.1:n.3636+105_3636+106insGAA
NM_001282677.1:c.3465+105_3465+106insGAA (PEX1) NP_001269606.1:n.3465+105_3465+106insGAA
NM_001282678.1:c.3012+105_3012+106insGAA (PEX1) NP_001269607.1:n.3012+105_3012+106insGAA
XM_005250433.3:c.1887+105_1887+106insGAA (PEX1) XP_005250490.1:n.1887+105_1887+106insGAA
XR_242246.3:n.3727+110_3727+111insGAA (PEX1)
XR_927494.1:n.1036-1634_1036-1633insTCT (GATAD1)
XR_927495.1:n.1036-477_1036-476insTCT (GATAD1)
XR_927496.1:n.1041-1634_1041-1633insTCT (GATAD1)
XR_927497.1:n.1036-477_1036-476insTCT (GATAD1)
XR_927498.1:n.1124-1634_1124-1633insTCT (GATAD1)
XR_927500.1:n.1033-1634_1033-1633insTCT (GATAD1)
XR_927502.1:n.1033-477_1033-476insTCT (GATAD1)
XR_927503.1:n.967-1634_967-1633insTCT (GATAD1)
XM_017012319.2:c.1887+105_1887+106insGAA (PEX1) XP_016867808.1:n.1887+105_1887+106insGAA
XR_001744808.2:n.2658+110_2658+111insGAA (PEX1)
XR_001744842.2:n.2281-1634_2281-1633insTCT (GATAD1)
XR_001744843.2:n.2212-1634_2212-1633insTCT (GATAD1)
XR_002956472.1:n.2281-477_2281-476insTCT (GATAD1)
XR_002956473.1:n.2369-1634_2369-1633insTCT (GATAD1)
XR_002956474.1:n.2286-1634_2286-1633insTCT (GATAD1)
XR_242246.5:n.3678+110_3678+111insGAA (PEX1)
XR_927494.3:n.1063-1634_1063-1633insTCT (GATAD1)
XR_927500.3:n.1060-1634_1060-1633insTCT (GATAD1)
XR_927503.3:n.994-1634_994-1633insTCT (GATAD1)
NM_000466.3:c.3636+105_3636+106insGAA (PEX1) MANE Select NP_000457.1:n.3636+105_3636+106insGAA
NM_001282677.2:c.3465+105_3465+106insGAA (PEX1) NP_001269606.1:n.3465+105_3465+106insGAA
NM_001282678.2:c.3012+105_3012+106insGAA (PEX1) NP_001269607.1:n.3012+105_3012+106insGAA