Canonical Allele Identifier: CA2819769590

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758459_13758460insACA , CM000685.2:g.13758459_13758460insACA	GRCh38
NC_000023.10:g.13776578_13776579insACA , CM000685.1:g.13776578_13776579insACA	GRCh37
NC_000023.9:g.13686499_13686500insACA	NCBI36
NG_008872.1:g.28747_28748insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1347+11_*1347+12insACA	ENSP00000369941.2:n.*1347+11_*1347+12insACA
ENST00000398395.8:c.*1115+669_*1115+670insACA	ENSP00000381432.5:n.*1115+669_*1115+670insACA
ENST00000464463.6:n.1828_1829insACA
ENST00000490265.6:n.2183+11_2183+12insACA
ENST00000682237.1:c.*1214+11_*1214+12insACA	ENSP00000507121.1:n.*1214+11_*1214+12insACA
ENST00000682562.1:c.*3056+11_*3056+12insACA	ENSP00000507874.1:n.*3056+11_*3056+12insACA
ENST00000682953.1:c.*2381+11_*2381+12insACA	ENSP00000507878.1:n.*2381+11_*2381+12insACA
ENST00000683055.1:c.*980_*981insACA	ENSP00000508191.1:n.*980_*981insACA
ENST00000683284.1:c.*1885+11_*1885+12insACA	ENSP00000507837.1:n.*1885+11_*1885+12insACA
ENST00000683427.1:c.*311+669_*311+670insACA	ENSP00000507290.1:n.*311+669_*311+670insACA
ENST00000683454.1:n.1668+11_1668+12insACA
ENST00000683637.1:n.2763+11_2763+12insACA
ENST00000683655.1:c.*1868+11_*1868+12insACA	ENSP00000506770.1:n.*1868+11_*1868+12insACA
ENST00000683713.1:c.*1885+11_*1885+12insACA	ENSP00000507797.1:n.*1885+11_*1885+12insACA
ENST00000684577.1:c.*1351+11_*1351+12insACA	ENSP00000507871.1:n.*1351+11_*1351+12insACA
ENST00000340096.11:c.1654+11_1654+12insACA MANE Select	ENSP00000344314.6:n.1654+11_1654+12insACA
ENST00000340096.10:c.1654+11_1654+12insACA	ENSP00000344314.6:n.1654+11_1654+12insACA
ENST00000380550.6:c.1534+11_1534+12insACA	ENSP00000369923.3:n.1534+11_1534+12insACA
ENST00000380567.5:c.1234+11_1234+12insACA	ENSP00000369941.1:n.1234+11_1234+12insACA
ENST00000398395.7:c.1011+669_1011+670insACA	ENSP00000381432.4:n.1011+669_1011+670insACA
ENST00000490265.5:n.2629+11_2629+12insACA
NM_003611.2:c.1654+11_1654+12insACA	NP_003602.1:n.1654+11_1654+12insACA
XM_005274599.2:c.1675+11_1675+12insACA	XP_005274656.1:n.1675+11_1675+12insACA
XM_005274602.2:c.1675+11_1675+12insACA	XP_005274659.1:n.1675+11_1675+12insACA
XM_005274603.2:c.1555+11_1555+12insACA	XP_005274660.1:n.1555+11_1555+12insACA
XM_005274604.2:c.1534+11_1534+12insACA	XP_005274661.1:n.1534+11_1534+12insACA
XM_005274606.2:c.1510+11_1510+12insACA	XP_005274663.1:n.1510+11_1510+12insACA
XM_005274607.3:c.1234+11_1234+12insACA	XP_005274664.1:n.1234+11_1234+12insACA
XM_011545591.1:c.1675+11_1675+12insACA	XP_011543893.1:n.1675+11_1675+12insACA
XM_011545592.1:c.1462+11_1462+12insACA	XP_011543894.1:n.1462+11_1462+12insACA
XM_011545593.1:c.1675+11_1675+12insACA	XP_011543895.1:n.1675+11_1675+12insACA
XM_011545594.1:c.1333+11_1333+12insACA	XP_011543896.1:n.1333+11_1333+12insACA
XM_011545595.1:c.1333+11_1333+12insACA	XP_011543897.1:n.1333+11_1333+12insACA
XM_011545596.1:c.1675+11_1675+12insACA	XP_011543898.1:n.1675+11_1675+12insACA
XM_011545597.1:c.1234+11_1234+12insACA	XP_011543899.1:n.1234+11_1234+12insACA
XM_011545598.1:c.379+11_379+12insACA	XP_011543900.1:n.379+11_379+12insACA
XR_247288.2:n.2014+11_2014+12insACA
NM_001330209.1:c.1534+11_1534+12insACA	NP_001317138.1:n.1534+11_1534+12insACA
NM_001330210.1:c.1234+11_1234+12insACA	NP_001317139.1:n.1234+11_1234+12insACA
XM_005274606.4:c.1510+11_1510+12insACA	XP_005274663.1:n.1510+11_1510+12insACA
XM_011545592.3:c.1462+11_1462+12insACA	XP_011543894.1:n.1462+11_1462+12insACA
XM_011545594.3:c.1333+11_1333+12insACA	XP_011543896.1:n.1333+11_1333+12insACA
XM_011545597.2:c.1234+11_1234+12insACA	XP_011543899.1:n.1234+11_1234+12insACA
XM_017029909.1:c.1234+11_1234+12insACA	XP_016885398.1:n.1234+11_1234+12insACA
XM_017029911.1:c.712+11_712+12insACA	XP_016885400.1:n.712+11_712+12insACA
XM_024452468.1:c.379+11_379+12insACA	XP_024308236.1:n.379+11_379+12insACA
XM_024452469.1:c.379+11_379+12insACA	XP_024308237.1:n.379+11_379+12insACA
XM_024452470.1:c.379+11_379+12insACA	XP_024308238.1:n.379+11_379+12insACA
XM_024452471.1:c.379+11_379+12insACA	XP_024308239.1:n.379+11_379+12insACA
NM_003611.3:c.1654+11_1654+12insACA MANE Select	NP_003602.1:n.1654+11_1654+12insACA
NM_001330209.2:c.1534+11_1534+12insACA	NP_001317138.1:n.1534+11_1534+12insACA
NM_001330210.2:c.1234+11_1234+12insACA	NP_001317139.1:n.1234+11_1234+12insACA