Canonical Allele Identifier: CA2416371721

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758395_13758397delinsGTT , CM000685.2:g.13758395_13758397delinsGTT	GRCh38
NC_000023.10:g.13776514_13776516delinsGTT , CM000685.1:g.13776514_13776516delinsGTT	GRCh37
NC_000023.9:g.13686435_13686437delinsGTT	NCBI36
NG_008872.1:g.28683_28685delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1294_*1296delinsGTT	ENSP00000369941.2:n.*1294_*1296delinsGTT
ENST00000398395.8:c.*1115+605_*1115+607delinsGTT	ENSP00000381432.5:n.*1115+605_*1115+607delinsGTT
ENST00000464463.6:n.1764_1766delinsGTT
ENST00000490265.6:n.2130_2132delinsGTT
ENST00000682237.1:c.*1161_*1163delinsGTT	ENSP00000507121.1:n.*1161_*1163delinsGTT
ENST00000682562.1:c.*3003_*3005delinsGTT	ENSP00000507874.1:n.*3003_*3005delinsGTT
ENST00000682953.1:c.*2328_*2330delinsGTT	ENSP00000507878.1:n.*2328_*2330delinsGTT
ENST00000683055.1:c.*916_*918delinsGTT	ENSP00000508191.1:n.*916_*918delinsGTT
ENST00000683284.1:c.*1832_*1834delinsGTT	ENSP00000507837.1:n.*1832_*1834delinsGTT
ENST00000683427.1:c.*311+605_*311+607delinsGTT	ENSP00000507290.1:n.*311+605_*311+607delinsGTT
ENST00000683454.1:n.1615_1617delinsGTT
ENST00000683637.1:n.2710_2712delinsGTT
ENST00000683655.1:c.*1815_*1817delinsGTT	ENSP00000506770.1:n.*1815_*1817delinsGTT
ENST00000683713.1:c.*1832_*1834delinsGTT	ENSP00000507797.1:n.*1832_*1834delinsGTT
ENST00000684577.1:c.*1298_*1300delinsGTT	ENSP00000507871.1:n.*1298_*1300delinsGTT
ENST00000340096.11:c.1601_1603delinsGTT MANE Select	ENSP00000344314.6:p.Ser534=
ENST00000340096.10:c.1601_1603delinsGTT	ENSP00000344314.6:p.Ser534=
ENST00000380550.6:c.1481_1483delinsGTT	ENSP00000369923.3:p.Ser494=
ENST00000380567.5:c.1181_1183delinsGTT	ENSP00000369941.1:p.Ser394=
ENST00000398395.7:c.1011+605_1011+607delinsGTT	ENSP00000381432.4:n.1011+605_1011+607delinsGTT
ENST00000490265.5:n.2576_2578delinsGTT
NM_003611.2:c.1601_1603delinsGTT	NP_003602.1:p.Ser534=
XM_005274599.2:c.1622_1624delinsGTT	XP_005274656.1:p.Ser541=
XM_005274602.2:c.1622_1624delinsGTT	XP_005274659.1:p.Ser541=
XM_005274603.2:c.1502_1504delinsGTT	XP_005274660.1:p.Ser501=
XM_005274604.2:c.1481_1483delinsGTT	XP_005274661.1:p.Ser494=
XM_005274606.2:c.1457_1459delinsGTT	XP_005274663.1:p.Ser486=
XM_005274607.3:c.1181_1183delinsGTT	XP_005274664.1:p.Ser394=
XM_011545591.1:c.1622_1624delinsGTT	XP_011543893.1:p.Ser541=
XM_011545592.1:c.1409_1411delinsGTT	XP_011543894.1:p.Ser470=
XM_011545593.1:c.1622_1624delinsGTT	XP_011543895.1:p.Ser541=
XM_011545594.1:c.1280_1282delinsGTT	XP_011543896.1:p.Ser427=
XM_011545595.1:c.1280_1282delinsGTT	XP_011543897.1:p.Ser427=
XM_011545596.1:c.1622_1624delinsGTT	XP_011543898.1:p.Ser541=
XM_011545597.1:c.1181_1183delinsGTT	XP_011543899.1:p.Ser394=
XM_011545598.1:c.326_328delinsGTT	XP_011543900.1:p.Ser109=
XR_247288.2:n.1961_1963delinsGTT
NM_001330209.1:c.1481_1483delinsGTT	NP_001317138.1:p.Ser494=
NM_001330210.1:c.1181_1183delinsGTT	NP_001317139.1:p.Ser394=
XM_005274606.4:c.1457_1459delinsGTT	XP_005274663.1:p.Ser486=
XM_011545592.3:c.1409_1411delinsGTT	XP_011543894.1:p.Ser470=
XM_011545594.3:c.1280_1282delinsGTT	XP_011543896.1:p.Ser427=
XM_011545597.2:c.1181_1183delinsGTT	XP_011543899.1:p.Ser394=
XM_017029909.1:c.1181_1183delinsGTT	XP_016885398.1:p.Ser394=
XM_017029911.1:c.659_661delinsGTT	XP_016885400.1:p.Ser220=
XM_024452468.1:c.326_328delinsGTT	XP_024308236.1:p.Ser109=
XM_024452469.1:c.326_328delinsGTT	XP_024308237.1:p.Ser109=
XM_024452470.1:c.326_328delinsGTT	XP_024308238.1:p.Ser109=
XM_024452471.1:c.326_328delinsGTT	XP_024308239.1:p.Ser109=
NM_003611.3:c.1601_1603delinsGTT MANE Select	NP_003602.1:p.Ser534=
NM_001330209.2:c.1481_1483delinsGTT	NP_001317138.1:p.Ser494=
NM_001330210.2:c.1181_1183delinsGTT	NP_001317139.1:p.Ser394=