Canonical Allele Identifier: CA344032
Community Standard Title: NM_003611.3(OFD1):c.65dup (p.Leu23AlafsTer6)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13735300dup , CM000685.2:g.13735300dup GRCh38
NC_000023.10:g.13753419dup , CM000685.1:g.13753419dup GRCh37
NC_000023.9:g.13663340dup NCBI36
NG_008872.1:g.5588dup
NG_011555.1:g.4328dup

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.65dup MANE Select NP_003602.1:p.Leu23AlafsTer6
ENST00000340096.11:c.65dup MANE Select ENSP00000344314.6:p.Leu23AlafsTer6
NM_001330209.1:c.65dup NP_001317138.1:p.Leu23AlafsTer6
NM_001330209.2:c.65dup NP_001317138.1:p.Leu23AlafsTer6
NM_001330210.1:c.-481dup NP_001317139.1:n.-481dup
NM_001330210.2:c.-481dup NP_001317139.1:n.-481dup
NM_003611.2:c.65dup NP_003602.1:p.Leu23AlafsTer6
ENST00000340096.10:c.65dup ENSP00000344314.6:p.Leu23AlafsTer6
ENST00000380550.6:c.65dup ENSP00000369923.3:p.Leu23AlafsTer6
ENST00000380567.5:c.-481dup ENSP00000369941.1:n.-481dup
ENST00000380567.6:c.65dup ENSP00000369941.2:p.Leu23AlafsTer6
ENST00000398395.7:c.-470dup ENSP00000381432.4:n.-470dup
ENST00000398395.8:c.65dup ENSP00000381432.5:p.Leu23AlafsTer6
ENST00000464463.6:n.348dup
ENST00000485052.5:n.380dup
ENST00000485052.6:n.558dup
ENST00000490265.5:n.376dup
ENST00000490265.6:n.37dup
ENST00000682237.1:c.65dup ENSP00000507121.1:p.Leu23AlafsTer6
ENST00000682562.1:c.65dup ENSP00000507874.1:p.Leu23AlafsTer6
ENST00000682953.1:c.65dup ENSP00000507878.1:p.Leu23AlafsTer6
ENST00000683055.1:c.65dup ENSP00000508191.1:p.Leu23AlafsTer6
ENST00000683284.1:c.65dup ENSP00000507837.1:p.Leu23AlafsTer6
ENST00000683427.1:c.65dup ENSP00000507290.1:p.Leu23AlafsTer6
ENST00000683655.1:c.65dup ENSP00000506770.1:p.Leu23AlafsTer6
ENST00000683713.1:c.65dup ENSP00000507797.1:p.Leu23AlafsTer6
ENST00000684577.1:c.65dup ENSP00000507871.1:p.Leu23AlafsTer6
XM_005274599.2:c.86dup XP_005274656.1:p.Leu30AlafsTer6
XM_005274602.2:c.86dup XP_005274659.1:p.Leu30AlafsTer6
XM_005274603.2:c.86dup XP_005274660.1:p.Leu30AlafsTer6
XM_005274604.2:c.65dup XP_005274661.1:p.Leu23AlafsTer6
XM_005274606.2:c.-269dup XP_005274663.1:n.-269dup
XM_005274606.4:c.-269dup XP_005274663.1:n.-269dup
XM_011545591.1:c.86dup XP_011543893.1:p.Leu30AlafsTer6
XM_011545592.1:c.-139dup XP_011543894.1:n.-139dup
XM_011545592.3:c.-139dup XP_011543894.1:n.-139dup
XM_011545593.1:c.86dup XP_011543895.1:p.Leu30AlafsTer6
XM_011545594.1:c.-79dup XP_011543896.1:n.-79dup
XM_011545594.3:c.-79dup XP_011543896.1:n.-79dup
XM_011545595.1:c.-33+80dup XP_011543897.1:n.-33+80dup
XM_011545596.1:c.86dup XP_011543898.1:p.Leu30AlafsTer6
XM_011545597.1:c.-481dup XP_011543899.1:n.-481dup
XM_011545597.2:c.-481dup XP_011543899.1:n.-481dup
XM_017029909.1:c.-303dup XP_016885398.1:n.-303dup
XM_024452468.1:c.-1875dup XP_024308236.1:n.-1875dup
XM_024452469.1:c.-2064dup XP_024308237.1:n.-2064dup
XM_024452470.1:c.-1697dup XP_024308238.1:n.-1697dup
XM_024452471.1:c.-1875dup XP_024308239.1:n.-1875dup
XR_247288.2:n.425dup