Canonical Allele Identifier: CA344035
Community Standard Title: NM_003611.3(OFD1):c.709_710del (p.Lys237ValfsTer2)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746834_13746835del , CM000685.2:g.13746834_13746835del GRCh38
NC_000023.10:g.13764953_13764954del , CM000685.1:g.13764953_13764954del GRCh37
NC_000023.9:g.13674874_13674875del NCBI36
NG_008872.1:g.17122_17123del

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.709_710del MANE Select NP_003602.1:p.Lys237ValfsTer2
ENST00000340096.11:c.709_710del MANE Select ENSP00000344314.6:p.Lys237ValfsTer2
NM_001330209.1:c.709_710del NP_001317138.1:p.Lys237ValfsTer2
NM_001330209.2:c.709_710del NP_001317138.1:p.Lys237ValfsTer2
NM_001330210.1:c.289_290del NP_001317139.1:p.Lys97ValfsTer2
NM_001330210.2:c.289_290del NP_001317139.1:p.Lys97ValfsTer2
NM_003611.2:c.709_710del NP_003602.1:p.Lys237ValfsTer2
ENST00000340096.10:c.709_710del ENSP00000344314.6:p.Lys237ValfsTer2
ENST00000380550.6:c.709_710del ENSP00000369923.3:p.Lys237ValfsTer2
ENST00000380567.5:c.289_290del ENSP00000369941.1:p.Lys97ValfsTer2
ENST00000380567.6:c.*402_*403del ENSP00000369941.2:n.*402_*403del
ENST00000398395.7:c.298_299del ENSP00000381432.4:p.Lys100ValfsTer2
ENST00000398395.8:c.*402_*403del ENSP00000381432.5:n.*402_*403del
ENST00000464463.6:n.992_993del
ENST00000490265.5:n.1020_1021del
ENST00000490265.6:n.571_572del
ENST00000682237.1:c.709_710del ENSP00000507121.1:p.Lys237ValfsTer2
ENST00000682562.1:c.*402_*403del ENSP00000507874.1:n.*402_*403del
ENST00000682953.1:c.*772_*773del ENSP00000507878.1:n.*772_*773del
ENST00000683055.1:c.604_605del ENSP00000508191.1:p.Lys202ValfsTer2
ENST00000683065.1:n.118_119del
ENST00000683284.1:c.*276_*277del ENSP00000507837.1:n.*276_*277del
ENST00000683427.1:c.709_710del ENSP00000507290.1:p.Lys237ValfsTer2
ENST00000683454.1:n.723_724del
ENST00000683637.1:n.1154_1155del
ENST00000683655.1:c.*259_*260del ENSP00000506770.1:n.*259_*260del
ENST00000683713.1:c.*276_*277del ENSP00000507797.1:n.*276_*277del
ENST00000684577.1:c.*402_*403del ENSP00000507871.1:n.*402_*403del
XM_005274599.2:c.730_731del XP_005274656.1:p.Lys244ValfsTer2
XM_005274602.2:c.730_731del XP_005274659.1:p.Lys244ValfsTer2
XM_005274603.2:c.730_731del XP_005274660.1:p.Lys244ValfsTer2
XM_005274604.2:c.709_710del XP_005274661.1:p.Lys237ValfsTer2
XM_005274606.2:c.565_566del XP_005274663.1:p.Lys189ValfsTer2
XM_005274606.4:c.565_566del XP_005274663.1:p.Lys189ValfsTer2
XM_005274607.3:c.289_290del XP_005274664.1:p.Lys97ValfsTer2
XM_011545591.1:c.730_731del XP_011543893.1:p.Lys244ValfsTer2
XM_011545592.1:c.517_518del XP_011543894.1:p.Lys173ValfsTer2
XM_011545592.3:c.517_518del XP_011543894.1:p.Lys173ValfsTer2
XM_011545593.1:c.730_731del XP_011543895.1:p.Lys244ValfsTer2
XM_011545594.1:c.388_389del XP_011543896.1:p.Lys130ValfsTer2
XM_011545594.3:c.388_389del XP_011543896.1:p.Lys130ValfsTer2
XM_011545595.1:c.388_389del XP_011543897.1:p.Lys130ValfsTer2
XM_011545596.1:c.730_731del XP_011543898.1:p.Lys244ValfsTer2
XM_011545597.1:c.289_290del XP_011543899.1:p.Lys97ValfsTer2
XM_011545597.2:c.289_290del XP_011543899.1:p.Lys97ValfsTer2
XM_017029909.1:c.289_290del XP_016885398.1:p.Lys97ValfsTer2
XM_024452468.1:c.-1231_-1230del XP_024308236.1:n.-1231_-1230del
XM_024452469.1:c.-1231_-1230del XP_024308237.1:n.-1231_-1230del
XM_024452470.1:c.-1231_-1230del XP_024308238.1:n.-1231_-1230del
XM_024452471.1:c.-1231_-1230del XP_024308239.1:n.-1231_-1230del
XR_247288.2:n.1069_1070del