Canonical Allele Identifier: CA2574179462
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408797_2408798del , CM000663.2:g.2408797_2408798del GRCh38
NC_000001.10:g.2340236_2340237del , CM000663.1:g.2340236_2340237del GRCh37
NC_000001.9:g.2330096_2330097del NCBI36
NG_008342.1:g.8774_8775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.254_255del ENSP00000288774.3:p.His85ArgfsTer?
ENST00000447513.7:c.254_255del MANE Select ENSP00000407922.2:p.His85ArgfsTer?
ENST00000650293.1:c.208_209del
ENST00000288774.7:c.254_255del ENSP00000288774.3:p.His85ArgfsTer?
ENST00000447513.6:c.254_255del ENSP00000407922.2:p.His85ArgfsTer?
ENST00000502666.1:c.459_460del ENSP00000461951.1:n.459_460del
ENST00000507596.5:c.254_255del ENSP00000424291.1:p.His85ArgfsTer?
ENST00000508384.5:c.-179_-178del ENSP00000464289.1:n.-179_-178del
ENST00000510434.1:c.254_255del ENSP00000423051.1:p.His85ArgfsTer?
ENST00000514502.1:c.*271_*272del ENSP00000425924.1:n.*271_*272del
ENST00000515760.1:n.388_389del
NM_002617.3:c.254_255del NP_002608.1:p.His85ArgfsTer?
NM_153818.1:c.254_255del NP_722540.1:p.His85ArgfsTer?
XM_011541573.1:c.254_255del XP_011539875.1:p.His85ArgfsTer?
XM_011541574.1:c.-179_-178del XP_011539876.1:n.-179_-178del
XM_011541575.1:c.-179_-178del XP_011539877.1:n.-179_-178del
XM_011541576.1:c.254_255del XP_011539878.1:p.His85ArgfsTer?
XR_946666.1:n.374_375del
XM_011541576.2:c.254_255del XP_011539878.1:p.His85ArgfsTer?
XR_946666.2:n.323_324del
NM_001374425.1:c.254_255del NP_001361354.1:p.His85ArgfsTer?
NM_001374426.1:c.-179_-178del NP_001361355.1:n.-179_-178del
NM_001374427.1:c.-179_-178del NP_001361356.1:n.-179_-178del
NM_002617.4:c.254_255del MANE Select NP_002608.1:p.His85ArgfsTer?
NM_153818.2:c.254_255del NP_722540.1:p.His85ArgfsTer?
NR_164636.1:n.373_374del