Canonical Allele Identifier: CA2579553760

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758419del , CM000685.2:g.13758419del	GRCh38
NC_000023.10:g.13776538del , CM000685.1:g.13776538del	GRCh37
NC_000023.9:g.13686459del	NCBI36
NG_008872.1:g.28707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1318del	ENSP00000369941.2:n.*1318del
ENST00000398395.8:c.*1115+629del	ENSP00000381432.5:n.*1115+629del
ENST00000464463.6:n.1788del
ENST00000490265.6:n.2154del
ENST00000682237.1:c.*1185del	ENSP00000507121.1:n.*1185del
ENST00000682562.1:c.*3027del	ENSP00000507874.1:n.*3027del
ENST00000682953.1:c.*2352del	ENSP00000507878.1:n.*2352del
ENST00000683055.1:c.*940del	ENSP00000508191.1:n.*940del
ENST00000683284.1:c.*1856del	ENSP00000507837.1:n.*1856del
ENST00000683427.1:c.*311+629del	ENSP00000507290.1:n.*311+629del
ENST00000683454.1:n.1639del
ENST00000683637.1:n.2734del
ENST00000683655.1:c.*1839del	ENSP00000506770.1:n.*1839del
ENST00000683713.1:c.*1856del	ENSP00000507797.1:n.*1856del
ENST00000684577.1:c.*1322del	ENSP00000507871.1:n.*1322del
ENST00000340096.11:c.1625del MANE Select	ENSP00000344314.6:p.Leu542Ter
ENST00000340096.10:c.1625del	ENSP00000344314.6:p.Leu542Ter
ENST00000380550.6:c.1505del	ENSP00000369923.3:p.Leu502Ter
ENST00000380567.5:c.1205del	ENSP00000369941.1:p.Leu402Ter
ENST00000398395.7:c.1011+629del	ENSP00000381432.4:n.1011+629del
ENST00000490265.5:n.2600del
NM_003611.2:c.1625del	NP_003602.1:p.Leu542Ter
XM_005274599.2:c.1646del	XP_005274656.1:p.Leu549Ter
XM_005274602.2:c.1646del	XP_005274659.1:p.Leu549Ter
XM_005274603.2:c.1526del	XP_005274660.1:p.Leu509Ter
XM_005274604.2:c.1505del	XP_005274661.1:p.Leu502Ter
XM_005274606.2:c.1481del	XP_005274663.1:p.Leu494Ter
XM_005274607.3:c.1205del	XP_005274664.1:p.Leu402Ter
XM_011545591.1:c.1646del	XP_011543893.1:p.Leu549Ter
XM_011545592.1:c.1433del	XP_011543894.1:p.Leu478Ter
XM_011545593.1:c.1646del	XP_011543895.1:p.Leu549Ter
XM_011545594.1:c.1304del	XP_011543896.1:p.Leu435Ter
XM_011545595.1:c.1304del	XP_011543897.1:p.Leu435Ter
XM_011545596.1:c.1646del	XP_011543898.1:p.Leu549Ter
XM_011545597.1:c.1205del	XP_011543899.1:p.Leu402Ter
XM_011545598.1:c.350del	XP_011543900.1:p.Leu117Ter
XR_247288.2:n.1985del
NM_001330209.1:c.1505del	NP_001317138.1:p.Leu502Ter
NM_001330210.1:c.1205del	NP_001317139.1:p.Leu402Ter
XM_005274606.4:c.1481del	XP_005274663.1:p.Leu494Ter
XM_011545592.3:c.1433del	XP_011543894.1:p.Leu478Ter
XM_011545594.3:c.1304del	XP_011543896.1:p.Leu435Ter
XM_011545597.2:c.1205del	XP_011543899.1:p.Leu402Ter
XM_017029909.1:c.1205del	XP_016885398.1:p.Leu402Ter
XM_017029911.1:c.683del	XP_016885400.1:p.Leu228Ter
XM_024452468.1:c.350del	XP_024308236.1:p.Leu117Ter
XM_024452469.1:c.350del	XP_024308237.1:p.Leu117Ter
XM_024452470.1:c.350del	XP_024308238.1:p.Leu117Ter
XM_024452471.1:c.350del	XP_024308239.1:p.Leu117Ter
NM_003611.3:c.1625del MANE Select	NP_003602.1:p.Leu542Ter
NM_001330209.2:c.1505del	NP_001317138.1:p.Leu502Ter
NM_001330210.2:c.1205del	NP_001317139.1:p.Leu402Ter