Canonical Allele Identifier: CA2416371739

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758449_13758460delinsGTTAGAGACGTT , CM000685.2:g.13758449_13758460delinsGTTAGAGACGTT	GRCh38
NC_000023.10:g.13776568_13776579delinsGTTAGAGACGTT , CM000685.1:g.13776568_13776579delinsGTTAGAGACGTT	GRCh37
NC_000023.9:g.13686489_13686500delinsGTTAGAGACGTT	NCBI36
NG_008872.1:g.28737_28748delinsGTTAGAGACGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1347+1_*1347+12delinsGTTAGAGACGTT	ENSP00000369941.2:n.*1347+1_*1347+12delinsGTTAGAGACGTT
ENST00000398395.8:c.*1115+659_*1115+670delinsGTTAGAGACGTT	ENSP00000381432.5:n.*1115+659_*1115+670delinsGTTAGAGACGTT
ENST00000464463.6:n.1818_1829delinsGTTAGAGACGTT
ENST00000490265.6:n.2183+1_2183+12delinsGTTAGAGACGTT
ENST00000682237.1:c.*1214+1_*1214+12delinsGTTAGAGACGTT	ENSP00000507121.1:n.*1214+1_*1214+12delinsGTTAGAGACGTT
ENST00000682562.1:c.*3056+1_*3056+12delinsGTTAGAGACGTT	ENSP00000507874.1:n.*3056+1_*3056+12delinsGTTAGAGACGTT
ENST00000682953.1:c.*2381+1_*2381+12delinsGTTAGAGACGTT	ENSP00000507878.1:n.*2381+1_*2381+12delinsGTTAGAGACGTT
ENST00000683055.1:c.*970_*981delinsGTTAGAGACGTT	ENSP00000508191.1:n.*970_*981delinsGTTAGAGACGTT
ENST00000683284.1:c.*1885+1_*1885+12delinsGTTAGAGACGTT	ENSP00000507837.1:n.*1885+1_*1885+12delinsGTTAGAGACGTT
ENST00000683427.1:c.*311+659_*311+670delinsGTTAGAGACGTT	ENSP00000507290.1:n.*311+659_*311+670delinsGTTAGAGACGTT
ENST00000683454.1:n.1668+1_1668+12delinsGTTAGAGACGTT
ENST00000683637.1:n.2763+1_2763+12delinsGTTAGAGACGTT
ENST00000683655.1:c.*1868+1_*1868+12delinsGTTAGAGACGTT	ENSP00000506770.1:n.*1868+1_*1868+12delinsGTTAGAGACGTT
ENST00000683713.1:c.*1885+1_*1885+12delinsGTTAGAGACGTT	ENSP00000507797.1:n.*1885+1_*1885+12delinsGTTAGAGACGTT
ENST00000684577.1:c.*1351+1_*1351+12delinsGTTAGAGACGTT	ENSP00000507871.1:n.*1351+1_*1351+12delinsGTTAGAGACGTT
ENST00000340096.11:c.1654+1_1654+12delinsGTTAGAGACGTT MANE Select	ENSP00000344314.6:n.1654+1_1654+12delinsGTTAGAGACGTT
ENST00000340096.10:c.1654+1_1654+12delinsGTTAGAGACGTT	ENSP00000344314.6:n.1654+1_1654+12delinsGTTAGAGACGTT
ENST00000380550.6:c.1534+1_1534+12delinsGTTAGAGACGTT	ENSP00000369923.3:n.1534+1_1534+12delinsGTTAGAGACGTT
ENST00000380567.5:c.1234+1_1234+12delinsGTTAGAGACGTT	ENSP00000369941.1:n.1234+1_1234+12delinsGTTAGAGACGTT
ENST00000398395.7:c.1011+659_1011+670delinsGTTAGAGACGTT	ENSP00000381432.4:n.1011+659_1011+670delinsGTTAGAGACGTT
ENST00000490265.5:n.2629+1_2629+12delinsGTTAGAGACGTT
NM_003611.2:c.1654+1_1654+12delinsGTTAGAGACGTT	NP_003602.1:n.1654+1_1654+12delinsGTTAGAGACGTT
XM_005274599.2:c.1675+1_1675+12delinsGTTAGAGACGTT	XP_005274656.1:n.1675+1_1675+12delinsGTTAGAGACGTT
XM_005274602.2:c.1675+1_1675+12delinsGTTAGAGACGTT	XP_005274659.1:n.1675+1_1675+12delinsGTTAGAGACGTT
XM_005274603.2:c.1555+1_1555+12delinsGTTAGAGACGTT	XP_005274660.1:n.1555+1_1555+12delinsGTTAGAGACGTT
XM_005274604.2:c.1534+1_1534+12delinsGTTAGAGACGTT	XP_005274661.1:n.1534+1_1534+12delinsGTTAGAGACGTT
XM_005274606.2:c.1510+1_1510+12delinsGTTAGAGACGTT	XP_005274663.1:n.1510+1_1510+12delinsGTTAGAGACGTT
XM_005274607.3:c.1234+1_1234+12delinsGTTAGAGACGTT	XP_005274664.1:n.1234+1_1234+12delinsGTTAGAGACGTT
XM_011545591.1:c.1675+1_1675+12delinsGTTAGAGACGTT	XP_011543893.1:n.1675+1_1675+12delinsGTTAGAGACGTT
XM_011545592.1:c.1462+1_1462+12delinsGTTAGAGACGTT	XP_011543894.1:n.1462+1_1462+12delinsGTTAGAGACGTT
XM_011545593.1:c.1675+1_1675+12delinsGTTAGAGACGTT	XP_011543895.1:n.1675+1_1675+12delinsGTTAGAGACGTT
XM_011545594.1:c.1333+1_1333+12delinsGTTAGAGACGTT	XP_011543896.1:n.1333+1_1333+12delinsGTTAGAGACGTT
XM_011545595.1:c.1333+1_1333+12delinsGTTAGAGACGTT	XP_011543897.1:n.1333+1_1333+12delinsGTTAGAGACGTT
XM_011545596.1:c.1675+1_1675+12delinsGTTAGAGACGTT	XP_011543898.1:n.1675+1_1675+12delinsGTTAGAGACGTT
XM_011545597.1:c.1234+1_1234+12delinsGTTAGAGACGTT	XP_011543899.1:n.1234+1_1234+12delinsGTTAGAGACGTT
XM_011545598.1:c.379+1_379+12delinsGTTAGAGACGTT	XP_011543900.1:n.379+1_379+12delinsGTTAGAGACGTT
XR_247288.2:n.2014+1_2014+12delinsGTTAGAGACGTT
NM_001330209.1:c.1534+1_1534+12delinsGTTAGAGACGTT	NP_001317138.1:n.1534+1_1534+12delinsGTTAGAGACGTT
NM_001330210.1:c.1234+1_1234+12delinsGTTAGAGACGTT	NP_001317139.1:n.1234+1_1234+12delinsGTTAGAGACGTT
XM_005274606.4:c.1510+1_1510+12delinsGTTAGAGACGTT	XP_005274663.1:n.1510+1_1510+12delinsGTTAGAGACGTT
XM_011545592.3:c.1462+1_1462+12delinsGTTAGAGACGTT	XP_011543894.1:n.1462+1_1462+12delinsGTTAGAGACGTT
XM_011545594.3:c.1333+1_1333+12delinsGTTAGAGACGTT	XP_011543896.1:n.1333+1_1333+12delinsGTTAGAGACGTT
XM_011545597.2:c.1234+1_1234+12delinsGTTAGAGACGTT	XP_011543899.1:n.1234+1_1234+12delinsGTTAGAGACGTT
XM_017029909.1:c.1234+1_1234+12delinsGTTAGAGACGTT	XP_016885398.1:n.1234+1_1234+12delinsGTTAGAGACGTT
XM_017029911.1:c.712+1_712+12delinsGTTAGAGACGTT	XP_016885400.1:n.712+1_712+12delinsGTTAGAGACGTT
XM_024452468.1:c.379+1_379+12delinsGTTAGAGACGTT	XP_024308236.1:n.379+1_379+12delinsGTTAGAGACGTT
XM_024452469.1:c.379+1_379+12delinsGTTAGAGACGTT	XP_024308237.1:n.379+1_379+12delinsGTTAGAGACGTT
XM_024452470.1:c.379+1_379+12delinsGTTAGAGACGTT	XP_024308238.1:n.379+1_379+12delinsGTTAGAGACGTT
XM_024452471.1:c.379+1_379+12delinsGTTAGAGACGTT	XP_024308239.1:n.379+1_379+12delinsGTTAGAGACGTT
NM_003611.3:c.1654+1_1654+12delinsGTTAGAGACGTT MANE Select	NP_003602.1:n.1654+1_1654+12delinsGTTAGAGACGTT
NM_001330209.2:c.1534+1_1534+12delinsGTTAGAGACGTT	NP_001317138.1:n.1534+1_1534+12delinsGTTAGAGACGTT
NM_001330210.2:c.1234+1_1234+12delinsGTTAGAGACGTT	NP_001317139.1:n.1234+1_1234+12delinsGTTAGAGACGTT