Canonical Allele Identifier: CA204862
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208769
dbSNP Id: rs797044945

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13768085_13768089del , CM000685.2:g.13768085_13768089del GRCh38
NC_000023.10:g.13786204_13786208del , CM000685.1:g.13786204_13786208del GRCh37
NC_000023.9:g.13696125_13696129del NCBI36
NG_008872.1:g.38373_38377del

Transcript Alleles

HGVS Amino-acid change
ENST00000380567.6:c.*2482_*2486del ENSP00000369941.2:n.*2482_*2486del
ENST00000398395.8:c.*2250_*2254del ENSP00000381432.5:n.*2250_*2254del
ENST00000464463.6:n.4618_4622del
ENST00000490265.6:n.3318_3322del
ENST00000682237.1:c.*2349_*2353del ENSP00000507121.1:n.*2349_*2353del
ENST00000682562.1:c.*4080_*4084del ENSP00000507874.1:n.*4080_*4084del
ENST00000682953.1:c.*3405_*3409del ENSP00000507878.1:n.*3405_*3409del
ENST00000683055.1:c.*4428_*4432del ENSP00000508191.1:n.*4428_*4432del
ENST00000683284.1:c.*3020_*3024del ENSP00000507837.1:n.*3020_*3024del
ENST00000683427.1:c.*2215_*2219del ENSP00000507290.1:n.*2215_*2219del
ENST00000683454.1:n.2803_2807del
ENST00000683637.1:n.3898_3902del
ENST00000683655.1:c.*3003_*3007del ENSP00000506770.1:n.*3003_*3007del
ENST00000683713.1:c.*3020_*3024del ENSP00000507797.1:n.*3020_*3024del
ENST00000684577.1:c.*2375_*2379del ENSP00000507871.1:n.*2375_*2379del
ENST00000340096.11:c.2789_2793del MANE Select ENSP00000344314.6:p.Ile930LysfsTer8
ENST00000340096.10:c.2789_2793del ENSP00000344314.6:p.Ile930LysfsTer8
ENST00000380550.6:c.2669_2673del ENSP00000369923.3:p.Ile890LysfsTer8
ENST00000380567.5:c.2369_2373del ENSP00000369941.1:p.Ile790LysfsTer8
ENST00000398395.7:c.*1129_*1133del ENSP00000381432.4:n.*1129_*1133del
ENST00000464463.5:n.499_503del
ENST00000474705.1:n.181_185del
ENST00000490265.5:n.3764_3768del
NM_003611.2:c.2789_2793del NP_003602.1:p.Ile930LysfsTer8
XM_005274599.2:c.2810_2814del XP_005274656.1:p.Ile937LysfsTer8
XM_005274602.2:c.2699_2703del XP_005274659.1:p.Ile900LysfsTer8
XM_005274603.2:c.2690_2694del XP_005274660.1:p.Ile897LysfsTer8
XM_005274604.2:c.2669_2673del XP_005274661.1:p.Ile890LysfsTer8
XM_005274606.2:c.2645_2649del XP_005274663.1:p.Ile882LysfsTer8
XM_005274607.3:c.2369_2373del XP_005274664.1:p.Ile790LysfsTer8
XM_011545591.1:c.2810_2814del XP_011543893.1:p.Ile937LysfsTer8
XM_011545592.1:c.2597_2601del XP_011543894.1:p.Ile866LysfsTer8
XM_011545593.1:c.*66_*70del XP_011543895.1:n.*66_*70del
XM_011545594.1:c.2468_2472del XP_011543896.1:p.Ile823LysfsTer8
XM_011545595.1:c.2468_2472del XP_011543897.1:p.Ile823LysfsTer8
XM_011545596.1:c.*30_*34del XP_011543898.1:n.*30_*34del
XM_011545597.1:c.2258_2262del XP_011543899.1:p.Ile753LysfsTer8
XM_011545598.1:c.1514_1518del XP_011543900.1:p.Ile505LysfsTer8
XR_247288.2:n.2991_2995del
NM_001330209.1:c.2669_2673del NP_001317138.1:p.Ile890LysfsTer8
NM_001330210.1:c.2369_2373del NP_001317139.1:p.Ile790LysfsTer8
XM_005274606.4:c.2645_2649del XP_005274663.1:p.Ile882LysfsTer8
XM_011545592.3:c.2597_2601del XP_011543894.1:p.Ile866LysfsTer8
XM_011545594.3:c.2468_2472del XP_011543896.1:p.Ile823LysfsTer8
XM_011545597.2:c.2258_2262del XP_011543899.1:p.Ile753LysfsTer8
XM_017029909.1:c.2369_2373del XP_016885398.1:p.Ile790LysfsTer8
XM_017029911.1:c.1847_1851del XP_016885400.1:p.Ile616LysfsTer8
XM_024452468.1:c.1514_1518del XP_024308236.1:p.Ile505LysfsTer8
XM_024452469.1:c.1514_1518del XP_024308237.1:p.Ile505LysfsTer8
XM_024452470.1:c.1514_1518del XP_024308238.1:p.Ile505LysfsTer8
XM_024452471.1:c.1403_1407del XP_024308239.1:p.Ile468LysfsTer8
NM_003611.3:c.2789_2793del MANE Select NP_003602.1:p.Ile930LysfsTer8
NM_001330209.2:c.2669_2673del NP_001317138.1:p.Ile890LysfsTer8
NM_001330210.2:c.2369_2373del NP_001317139.1:p.Ile790LysfsTer8