Canonical Allele Identifier: CA344019
Gene: OFD1 HGNC NCBI

Linked Data

dbSNP Id: rs312262806

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13735278_13735279del , CM000685.2:g.13735278_13735279del GRCh38
NC_000023.10:g.13753397_13753398del , CM000685.1:g.13753397_13753398del GRCh37
NC_000023.9:g.13663318_13663319del NCBI36
NG_008872.1:g.5566_5567del
NG_011555.1:g.4346_4347del

Transcript Alleles

HGVS Amino-acid change
ENST00000380567.6:c.43_44del ENSP00000369941.2:p.Gln16ArgfsTer2
ENST00000398395.8:c.43_44del ENSP00000381432.5:p.Gln16ArgfsTer2
ENST00000464463.6:n.326_327del
ENST00000485052.6:n.536_537del
ENST00000490265.6:n.15_16del
ENST00000682237.1:c.43_44del ENSP00000507121.1:p.Gln16ArgfsTer2
ENST00000682562.1:c.43_44del ENSP00000507874.1:p.Gln16ArgfsTer2
ENST00000682953.1:c.43_44del ENSP00000507878.1:p.Gln16ArgfsTer2
ENST00000683055.1:c.43_44del ENSP00000508191.1:p.Gln16ArgfsTer2
ENST00000683284.1:c.43_44del ENSP00000507837.1:p.Gln16ArgfsTer2
ENST00000683427.1:c.43_44del ENSP00000507290.1:p.Gln16ArgfsTer2
ENST00000683655.1:c.43_44del ENSP00000506770.1:p.Gln16ArgfsTer2
ENST00000683713.1:c.43_44del ENSP00000507797.1:p.Gln16ArgfsTer2
ENST00000684577.1:c.43_44del ENSP00000507871.1:p.Gln16ArgfsTer2
ENST00000340096.11:c.43_44del MANE Select ENSP00000344314.6:p.Gln16ArgfsTer2
ENST00000340096.10:c.43_44del ENSP00000344314.6:p.Gln16ArgfsTer2
ENST00000380550.6:c.43_44del ENSP00000369923.3:p.Gln16ArgfsTer2
ENST00000380567.5:c.-503_-502del ENSP00000369941.1:n.-503_-502del
ENST00000398395.7:c.-492_-491del ENSP00000381432.4:n.-492_-491del
ENST00000485052.5:n.358_359del
ENST00000490265.5:n.354_355del
NM_003611.2:c.43_44del NP_003602.1:p.Gln16ArgfsTer2
XM_005274599.2:c.64_65del XP_005274656.1:p.Gln23ArgfsTer2
XM_005274602.2:c.64_65del XP_005274659.1:p.Gln23ArgfsTer2
XM_005274603.2:c.64_65del XP_005274660.1:p.Gln23ArgfsTer2
XM_005274604.2:c.43_44del XP_005274661.1:p.Gln16ArgfsTer2
XM_005274606.2:c.-291_-290del XP_005274663.1:n.-291_-290del
XM_011545591.1:c.64_65del XP_011543893.1:p.Gln23ArgfsTer2
XM_011545592.1:c.-161_-160del XP_011543894.1:n.-161_-160del
XM_011545593.1:c.64_65del XP_011543895.1:p.Gln23ArgfsTer2
XM_011545594.1:c.-101_-100del XP_011543896.1:n.-101_-100del
XM_011545595.1:c.-33+58_-33+59del XP_011543897.1:n.-33+58_-33+59del
XM_011545596.1:c.64_65del XP_011543898.1:p.Gln23ArgfsTer2
XM_011545597.1:c.-503_-502del XP_011543899.1:n.-503_-502del
XR_247288.2:n.403_404del
NM_001330209.1:c.43_44del NP_001317138.1:p.Gln16ArgfsTer2
NM_001330210.1:c.-503_-502del NP_001317139.1:n.-503_-502del
XM_005274606.4:c.-291_-290del XP_005274663.1:n.-291_-290del
XM_011545592.3:c.-161_-160del XP_011543894.1:n.-161_-160del
XM_011545597.2:c.-503_-502del XP_011543899.1:n.-503_-502del
XM_017029909.1:c.-325_-324del XP_016885398.1:n.-325_-324del
XM_024452468.1:c.-1897_-1896del XP_024308236.1:n.-1897_-1896del
XM_024452469.1:c.-2086_-2085del XP_024308237.1:n.-2086_-2085del
XM_024452470.1:c.-1719_-1718del XP_024308238.1:n.-1719_-1718del
XM_024452471.1:c.-1897_-1896del XP_024308239.1:n.-1897_-1896del
NM_003611.3:c.43_44del MANE Select NP_003602.1:p.Gln16ArgfsTer2
NM_001330209.2:c.43_44del NP_001317138.1:p.Gln16ArgfsTer2
NM_001330210.2:c.-503_-502del NP_001317139.1:n.-503_-502del