Canonical Allele Identifier: CA2740092018

Gene: OFD1

Linked Data

• ClinVar Variation Id: 2942258
• ClinVar RCV Id: RCV003805472

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758445_13758448del , CM000685.2:g.13758445_13758448del	GRCh38
NC_000023.10:g.13776564_13776567del , CM000685.1:g.13776564_13776567del	GRCh37
NC_000023.9:g.13686485_13686488del	NCBI36
NG_008872.1:g.28733_28736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1344_*1347del	ENSP00000369941.2:n.*1344_*1347del
ENST00000398395.8:c.*1115+655_*1115+658del	ENSP00000381432.5:n.*1115+655_*1115+658del
ENST00000464463.6:n.1814_1817del
ENST00000490265.6:n.2180_2183del
ENST00000682237.1:c.*1211_*1214del	ENSP00000507121.1:n.*1211_*1214del
ENST00000682562.1:c.*3053_*3056del	ENSP00000507874.1:n.*3053_*3056del
ENST00000682953.1:c.*2378_*2381del	ENSP00000507878.1:n.*2378_*2381del
ENST00000683055.1:c.*966_*969del	ENSP00000508191.1:n.*966_*969del
ENST00000683284.1:c.*1882_*1885del	ENSP00000507837.1:n.*1882_*1885del
ENST00000683427.1:c.*311+655_*311+658del	ENSP00000507290.1:n.*311+655_*311+658del
ENST00000683454.1:n.1665_1668del
ENST00000683637.1:n.2760_2763del
ENST00000683655.1:c.*1865_*1868del	ENSP00000506770.1:n.*1865_*1868del
ENST00000683713.1:c.*1882_*1885del	ENSP00000507797.1:n.*1882_*1885del
ENST00000684577.1:c.*1348_*1351del	ENSP00000507871.1:n.*1348_*1351del
ENST00000340096.11:c.1651_1654del MANE Select	ENSP00000344314.6:p.Thr551ProfsTer2
ENST00000340096.10:c.1651_1654del	ENSP00000344314.6:p.Thr551ProfsTer2
ENST00000380550.6:c.1531_1534del	ENSP00000369923.3:p.Thr511ProfsTer2
ENST00000380567.5:c.1231_1234del	ENSP00000369941.1:p.Thr411ProfsTer2
ENST00000398395.7:c.1011+655_1011+658del	ENSP00000381432.4:n.1011+655_1011+658del
ENST00000490265.5:n.2626_2629del
NM_003611.2:c.1651_1654del	NP_003602.1:p.Thr551ProfsTer2
XM_005274599.2:c.1672_1675del	XP_005274656.1:p.Thr558ProfsTer2
XM_005274602.2:c.1672_1675del	XP_005274659.1:p.Thr558ProfsTer2
XM_005274603.2:c.1552_1555del	XP_005274660.1:p.Thr518ProfsTer2
XM_005274604.2:c.1531_1534del	XP_005274661.1:p.Thr511ProfsTer2
XM_005274606.2:c.1507_1510del	XP_005274663.1:p.Thr503ProfsTer2
XM_005274607.3:c.1231_1234del	XP_005274664.1:p.Thr411ProfsTer2
XM_011545591.1:c.1672_1675del	XP_011543893.1:p.Thr558ProfsTer2
XM_011545592.1:c.1459_1462del	XP_011543894.1:p.Thr487ProfsTer2
XM_011545593.1:c.1672_1675del	XP_011543895.1:p.Thr558ProfsTer2
XM_011545594.1:c.1330_1333del	XP_011543896.1:p.Thr444ProfsTer2
XM_011545595.1:c.1330_1333del	XP_011543897.1:p.Thr444ProfsTer2
XM_011545596.1:c.1672_1675del	XP_011543898.1:p.Thr558ProfsTer2
XM_011545597.1:c.1231_1234del	XP_011543899.1:p.Thr411ProfsTer2
XM_011545598.1:c.376_379del	XP_011543900.1:p.Thr126ProfsTer2
XR_247288.2:n.2011_2014del
NM_001330209.1:c.1531_1534del	NP_001317138.1:p.Thr511ProfsTer2
NM_001330210.1:c.1231_1234del	NP_001317139.1:p.Thr411ProfsTer2
XM_005274606.4:c.1507_1510del	XP_005274663.1:p.Thr503ProfsTer2
XM_011545592.3:c.1459_1462del	XP_011543894.1:p.Thr487ProfsTer2
XM_011545594.3:c.1330_1333del	XP_011543896.1:p.Thr444ProfsTer2
XM_011545597.2:c.1231_1234del	XP_011543899.1:p.Thr411ProfsTer2
XM_017029909.1:c.1231_1234del	XP_016885398.1:p.Thr411ProfsTer2
XM_017029911.1:c.709_712del	XP_016885400.1:p.Thr237ProfsTer2
XM_024452468.1:c.376_379del	XP_024308236.1:p.Thr126ProfsTer2
XM_024452469.1:c.376_379del	XP_024308237.1:p.Thr126ProfsTer2
XM_024452470.1:c.376_379del	XP_024308238.1:p.Thr126ProfsTer2
XM_024452471.1:c.376_379del	XP_024308239.1:p.Thr126ProfsTer2
NM_003611.3:c.1651_1654del MANE Select	NP_003602.1:p.Thr551ProfsTer2
NM_001330209.2:c.1531_1534del	NP_001317138.1:p.Thr511ProfsTer2
NM_001330210.2:c.1231_1234del	NP_001317139.1:p.Thr411ProfsTer2