Canonical Allele Identifier: CA1725928604

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491497_92491498delinsTC , CM000669.2:g.92491497_92491498delinsTC GRCh38
NC_000007.13:g.92120811_92120812delinsTC , CM000669.1:g.92120811_92120812delinsTC GRCh37
NC_000007.12:g.91958747_91958748delinsTC NCBI36
NG_008341.1:g.42034_42035delinsGA
NG_008341.2:g.42034_42035delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3212_3213delinsGA (PEX1) MANE Select ENSP00000248633.4:p.Gly1071=
ENST00000248633.8:c.3212_3213delinsGA (PEX1) ENSP00000248633.4:p.Gly1071=
ENST00000428214.5:c.3041_3042delinsGA (PEX1) ENSP00000394413.1:p.Gly1014=
ENST00000438045.5:c.2246_2247delinsGA (PEX1) ENSP00000410438.1:p.Gly749=
ENST00000484913.5:n.3251_3252delinsGA (PEX1)
ENST00000496420.5:n.4267_4268delinsGA (PEX1)
NM_000466.2:c.3212_3213delinsGA (PEX1) NP_000457.1:p.Gly1071=
NM_001282677.1:c.3041_3042delinsGA (PEX1) NP_001269606.1:p.Gly1014=
NM_001282678.1:c.2588_2589delinsGA (PEX1) NP_001269607.1:p.Gly863=
XM_005250433.3:c.1463_1464delinsGA (PEX1) XP_005250490.1:p.Gly488=
XR_242246.3:n.3308_3309delinsGA (PEX1)
XM_017012319.2:c.1463_1464delinsGA (PEX1) XP_016867808.1:p.Gly488=
XR_001744808.2:n.2239_2240delinsGA (PEX1)
XR_001744842.2:n.2535_2536delinsTC (GATAD1)
XR_001744843.2:n.2466_2467delinsTC (GATAD1)
XR_002956472.1:n.2592_2593delinsTC (GATAD1)
XR_002956473.1:n.2623_2624delinsTC (GATAD1)
XR_002956474.1:n.2540_2541delinsTC (GATAD1)
XR_242246.5:n.3259_3260delinsGA (PEX1)
XR_927494.3:n.1317_1318delinsTC (GATAD1)
XR_927500.3:n.1314_1315delinsTC (GATAD1)
XR_927503.3:n.1248_1249delinsTC (GATAD1)
NM_000466.3:c.3212_3213delinsGA (PEX1) MANE Select NP_000457.1:p.Gly1071=
NM_001282677.2:c.3041_3042delinsGA (PEX1) NP_001269606.1:p.Gly1014=
NM_001282678.2:c.2588_2589delinsGA (PEX1) NP_001269607.1:p.Gly863=