Canonical Allele Identifier: CA344034
Community Standard Title: NM_003611.3(OFD1):c.707_719del (p.Lys236ArgfsTer3)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746832_13746844del , CM000685.2:g.13746832_13746844del GRCh38
NC_000023.10:g.13764951_13764963del , CM000685.1:g.13764951_13764963del GRCh37
NC_000023.9:g.13674872_13674884del NCBI36
NG_008872.1:g.17120_17132del

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.707_719del MANE Select NP_003602.1:p.Lys236ArgfsTer3
ENST00000340096.11:c.707_719del MANE Select ENSP00000344314.6:p.Lys236ArgfsTer3
NM_001330209.1:c.707_719del NP_001317138.1:p.Lys236ArgfsTer3
NM_001330209.2:c.707_719del NP_001317138.1:p.Lys236ArgfsTer3
NM_001330210.1:c.287_299del NP_001317139.1:p.Lys96ArgfsTer3
NM_001330210.2:c.287_299del NP_001317139.1:p.Lys96ArgfsTer3
NM_003611.2:c.707_719del NP_003602.1:p.Lys236ArgfsTer3
ENST00000340096.10:c.707_719del ENSP00000344314.6:p.Lys236ArgfsTer3
ENST00000380550.6:c.707_719del ENSP00000369923.3:p.Lys236ArgfsTer3
ENST00000380567.5:c.287_299del ENSP00000369941.1:p.Lys96ArgfsTer3
ENST00000380567.6:c.*400_*412del ENSP00000369941.2:n.*400_*412del
ENST00000398395.7:c.296_308del ENSP00000381432.4:p.Lys99ArgfsTer3
ENST00000398395.8:c.*400_*412del ENSP00000381432.5:n.*400_*412del
ENST00000464463.6:n.990_1002del
ENST00000490265.5:n.1018_1030del
ENST00000490265.6:n.569_581del
ENST00000682237.1:c.707_719del ENSP00000507121.1:p.Lys236ArgfsTer3
ENST00000682562.1:c.*400_*412del ENSP00000507874.1:n.*400_*412del
ENST00000682953.1:c.*770_*782del ENSP00000507878.1:n.*770_*782del
ENST00000683055.1:c.602_614del ENSP00000508191.1:p.Lys201ArgfsTer3
ENST00000683065.1:n.116_128del
ENST00000683284.1:c.*274_*286del ENSP00000507837.1:n.*274_*286del
ENST00000683427.1:c.707_719del ENSP00000507290.1:p.Lys236ArgfsTer3
ENST00000683454.1:n.721_733del
ENST00000683637.1:n.1152_1164del
ENST00000683655.1:c.*257_*269del ENSP00000506770.1:n.*257_*269del
ENST00000683713.1:c.*274_*286del ENSP00000507797.1:n.*274_*286del
ENST00000684577.1:c.*400_*412del ENSP00000507871.1:n.*400_*412del
XM_005274599.2:c.728_740del XP_005274656.1:p.Lys243ArgfsTer3
XM_005274602.2:c.728_740del XP_005274659.1:p.Lys243ArgfsTer3
XM_005274603.2:c.728_740del XP_005274660.1:p.Lys243ArgfsTer3
XM_005274604.2:c.707_719del XP_005274661.1:p.Lys236ArgfsTer3
XM_005274606.2:c.563_575del XP_005274663.1:p.Lys188ArgfsTer3
XM_005274606.4:c.563_575del XP_005274663.1:p.Lys188ArgfsTer3
XM_005274607.3:c.287_299del XP_005274664.1:p.Lys96ArgfsTer3
XM_011545591.1:c.728_740del XP_011543893.1:p.Lys243ArgfsTer3
XM_011545592.1:c.515_527del XP_011543894.1:p.Lys172ArgfsTer3
XM_011545592.3:c.515_527del XP_011543894.1:p.Lys172ArgfsTer3
XM_011545593.1:c.728_740del XP_011543895.1:p.Lys243ArgfsTer3
XM_011545594.1:c.386_398del XP_011543896.1:p.Lys129ArgfsTer3
XM_011545594.3:c.386_398del XP_011543896.1:p.Lys129ArgfsTer3
XM_011545595.1:c.386_398del XP_011543897.1:p.Lys129ArgfsTer3
XM_011545596.1:c.728_740del XP_011543898.1:p.Lys243ArgfsTer3
XM_011545597.1:c.287_299del XP_011543899.1:p.Lys96ArgfsTer3
XM_011545597.2:c.287_299del XP_011543899.1:p.Lys96ArgfsTer3
XM_017029909.1:c.287_299del XP_016885398.1:p.Lys96ArgfsTer3
XM_024452468.1:c.-1233_-1221del XP_024308236.1:n.-1233_-1221del
XM_024452469.1:c.-1233_-1221del XP_024308237.1:n.-1233_-1221del
XM_024452470.1:c.-1233_-1221del XP_024308238.1:n.-1233_-1221del
XM_024452471.1:c.-1233_-1221del XP_024308239.1:n.-1233_-1221del
XR_247288.2:n.1067_1079del