Canonical Allele Identifier: CA343966
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13756679_13756682del , CM000685.2:g.13756679_13756682del GRCh38
NC_000023.10:g.13774798_13774801del , CM000685.1:g.13774798_13774801del GRCh37
NC_000023.9:g.13684719_13684722del NCBI36
NG_008872.1:g.26967_26970del

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.1323_1326del MANE Select NP_003602.1:p.Glu442ArgfsTer27
ENST00000340096.11:c.1323_1326del MANE Select ENSP00000344314.6:p.Glu442ArgfsTer27
NM_001330209.1:c.1203_1206del NP_001317138.1:p.Glu402ArgfsTer27
NM_001330209.2:c.1203_1206del NP_001317138.1:p.Glu402ArgfsTer27
NM_001330210.1:c.903_906del NP_001317139.1:p.Glu302ArgfsTer27
NM_001330210.2:c.903_906del NP_001317139.1:p.Glu302ArgfsTer27
NM_003611.2:c.1323_1326del NP_003602.1:p.Glu442ArgfsTer27
ENST00000340096.10:c.1323_1326del ENSP00000344314.6:p.Glu442ArgfsTer27
ENST00000380550.6:c.1203_1206del ENSP00000369923.3:p.Glu402ArgfsTer27
ENST00000380567.5:c.903_906del ENSP00000369941.1:p.Glu302ArgfsTer27
ENST00000380567.6:c.*1016_*1019del ENSP00000369941.2:n.*1016_*1019del
ENST00000398395.7:c.792_795del ENSP00000381432.4:p.Glu265ArgfsTer27
ENST00000398395.8:c.*896_*899del ENSP00000381432.5:n.*896_*899del
ENST00000464463.6:n.1486_1489del
ENST00000490265.5:n.2298_2301del
ENST00000490265.6:n.1852_1855del
ENST00000682237.1:c.*883_*886del ENSP00000507121.1:n.*883_*886del
ENST00000682562.1:c.*2725_*2728del ENSP00000507874.1:n.*2725_*2728del
ENST00000682953.1:c.*2050_*2053del ENSP00000507878.1:n.*2050_*2053del
ENST00000683055.1:c.*92_*95del ENSP00000508191.1:n.*92_*95del
ENST00000683284.1:c.*1554_*1557del ENSP00000507837.1:n.*1554_*1557del
ENST00000683427.1:c.*92_*95del ENSP00000507290.1:n.*92_*95del
ENST00000683454.1:n.1337_1340del
ENST00000683637.1:n.2432_2435del
ENST00000683655.1:c.*1537_*1540del ENSP00000506770.1:n.*1537_*1540del
ENST00000683713.1:c.*1554_*1557del ENSP00000507797.1:n.*1554_*1557del
ENST00000684577.1:c.*1016_*1019del ENSP00000507871.1:n.*1016_*1019del
XM_005274599.2:c.1344_1347del XP_005274656.1:p.Glu449ArgfsTer27
XM_005274602.2:c.1344_1347del XP_005274659.1:p.Glu449ArgfsTer27
XM_005274603.2:c.1224_1227del XP_005274660.1:p.Glu409ArgfsTer27
XM_005274604.2:c.1203_1206del XP_005274661.1:p.Glu402ArgfsTer27
XM_005274606.2:c.1179_1182del XP_005274663.1:p.Glu394ArgfsTer27
XM_005274606.4:c.1179_1182del XP_005274663.1:p.Glu394ArgfsTer27
XM_005274607.3:c.903_906del XP_005274664.1:p.Glu302ArgfsTer27
XM_011545591.1:c.1344_1347del XP_011543893.1:p.Glu449ArgfsTer27
XM_011545592.1:c.1131_1134del XP_011543894.1:p.Glu378ArgfsTer27
XM_011545592.3:c.1131_1134del XP_011543894.1:p.Glu378ArgfsTer27
XM_011545593.1:c.1344_1347del XP_011543895.1:p.Glu449ArgfsTer27
XM_011545594.1:c.1002_1005del XP_011543896.1:p.Glu335ArgfsTer27
XM_011545594.3:c.1002_1005del XP_011543896.1:p.Glu335ArgfsTer27
XM_011545595.1:c.1002_1005del XP_011543897.1:p.Glu335ArgfsTer27
XM_011545596.1:c.1344_1347del XP_011543898.1:p.Glu449ArgfsTer27
XM_011545597.1:c.903_906del XP_011543899.1:p.Glu302ArgfsTer27
XM_011545597.2:c.903_906del XP_011543899.1:p.Glu302ArgfsTer27
XM_011545598.1:c.48_51del XP_011543900.1:p.Glu17ArgfsTer27
XM_017029909.1:c.903_906del XP_016885398.1:p.Glu302ArgfsTer27
XM_017029911.1:c.381_384del XP_016885400.1:p.Glu128ArgfsTer27
XM_024452468.1:c.48_51del XP_024308236.1:p.Glu17ArgfsTer27
XM_024452469.1:c.48_51del XP_024308237.1:p.Glu17ArgfsTer27
XM_024452470.1:c.48_51del XP_024308238.1:p.Glu17ArgfsTer27
XM_024452471.1:c.48_51del XP_024308239.1:p.Glu17ArgfsTer27
XR_247288.2:n.1683_1686del