Canonical Allele Identifier: CA16043178
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373644
ClinVar RCV Id: RCV000413868
dbSNP Id: rs1057518526

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746350dup , CM000685.2:g.13746350dup GRCh38
NC_000023.10:g.13764469dup , CM000685.1:g.13764469dup GRCh37
NC_000023.9:g.13674390dup NCBI36
NG_008872.1:g.16638dup

Transcript Alleles

HGVS Amino-acid change
ENST00000380567.6:c.*242dup ENSP00000369941.2:n.*242dup
ENST00000398395.8:c.*242dup ENSP00000381432.5:n.*242dup
ENST00000464463.6:n.832dup
ENST00000490265.6:n.411dup
ENST00000682237.1:c.549dup ENSP00000507121.1:p.Ala184CysfsTer19
ENST00000682562.1:c.*242dup ENSP00000507874.1:n.*242dup
ENST00000682953.1:c.*612dup ENSP00000507878.1:n.*612dup
ENST00000683055.1:c.444dup ENSP00000508191.1:p.Ala149CysfsTer19
ENST00000683284.1:c.*116dup ENSP00000507837.1:n.*116dup
ENST00000683427.1:c.549dup ENSP00000507290.1:p.Ala184CysfsTer19
ENST00000683454.1:n.563dup
ENST00000683637.1:n.994dup
ENST00000683655.1:c.*99dup ENSP00000506770.1:n.*99dup
ENST00000683713.1:c.*116dup ENSP00000507797.1:n.*116dup
ENST00000684577.1:c.*242dup ENSP00000507871.1:n.*242dup
ENST00000340096.11:c.549dup MANE Select ENSP00000344314.6:p.Ala184CysfsTer19
ENST00000340096.10:c.549dup ENSP00000344314.6:p.Ala184CysfsTer19
ENST00000380550.6:c.549dup ENSP00000369923.3:p.Ala184CysfsTer19
ENST00000380567.5:c.129dup ENSP00000369941.1:p.Ala44CysfsTer19
ENST00000398395.7:c.138dup ENSP00000381432.4:p.Ala47CysfsTer19
ENST00000490265.5:n.860dup
NM_003611.2:c.549dup NP_003602.1:p.Ala184CysfsTer19
XM_005274599.2:c.570dup XP_005274656.1:p.Ala191CysfsTer19
XM_005274602.2:c.570dup XP_005274659.1:p.Ala191CysfsTer19
XM_005274603.2:c.570dup XP_005274660.1:p.Ala191CysfsTer19
XM_005274604.2:c.549dup XP_005274661.1:p.Ala184CysfsTer19
XM_005274606.2:c.405dup XP_005274663.1:p.Ala136CysfsTer19
XM_005274607.3:c.129dup XP_005274664.1:p.Ala44CysfsTer19
XM_011545591.1:c.570dup XP_011543893.1:p.Ala191CysfsTer19
XM_011545592.1:c.357dup XP_011543894.1:p.Ala120CysfsTer19
XM_011545593.1:c.570dup XP_011543895.1:p.Ala191CysfsTer19
XM_011545594.1:c.228dup XP_011543896.1:p.Ala77CysfsTer19
XM_011545595.1:c.228dup XP_011543897.1:p.Ala77CysfsTer19
XM_011545596.1:c.570dup XP_011543898.1:p.Ala191CysfsTer19
XM_011545597.1:c.129dup XP_011543899.1:p.Ala44CysfsTer19
XR_247288.2:n.909dup
NM_001330209.1:c.549dup NP_001317138.1:p.Ala184CysfsTer19
NM_001330210.1:c.129dup NP_001317139.1:p.Ala44CysfsTer19
XM_005274606.4:c.405dup XP_005274663.1:p.Ala136CysfsTer19
XM_011545592.3:c.357dup XP_011543894.1:p.Ala120CysfsTer19
XM_011545594.3:c.228dup XP_011543896.1:p.Ala77CysfsTer19
XM_011545597.2:c.129dup XP_011543899.1:p.Ala44CysfsTer19
XM_017029909.1:c.129dup XP_016885398.1:p.Ala44CysfsTer19
XM_024452468.1:c.-1391dup XP_024308236.1:n.-1391dup
XM_024452469.1:c.-1391dup XP_024308237.1:n.-1391dup
XM_024452470.1:c.-1391dup XP_024308238.1:n.-1391dup
XM_024452471.1:c.-1391dup XP_024308239.1:n.-1391dup
NM_003611.3:c.549dup MANE Select NP_003602.1:p.Ala184CysfsTer19
NM_001330209.2:c.549dup NP_001317138.1:p.Ala184CysfsTer19
NM_001330210.2:c.129dup NP_001317139.1:p.Ala44CysfsTer19