Canonical Allele Identifier: CA10351742
Community Standard Title: NM_003611.3(OFD1):c.1056-21_1056-18del
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13753347_13753350del , CM000685.2:g.13753347_13753350del GRCh38
NC_000023.10:g.13771466_13771469del , CM000685.1:g.13771466_13771469del GRCh37
NC_000023.9:g.13681387_13681390del NCBI36
NG_008872.1:g.23635_23638del

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.1056-21_1056-18del MANE Select NP_003602.1:n.1056-21_1056-18del
ENST00000340096.11:c.1056-21_1056-18del MANE Select ENSP00000344314.6:n.1056-21_1056-18del
NM_001330209.1:c.936-21_936-18del NP_001317138.1:n.936-21_936-18del
NM_001330209.2:c.936-21_936-18del NP_001317138.1:n.936-21_936-18del
NM_001330210.1:c.636-21_636-18del NP_001317139.1:n.636-21_636-18del
NM_001330210.2:c.636-21_636-18del NP_001317139.1:n.636-21_636-18del
NM_003611.2:c.1056-21_1056-18del NP_003602.1:n.1056-21_1056-18del
ENST00000340096.10:c.1056-21_1056-18del ENSP00000344314.6:n.1056-21_1056-18del
ENST00000380550.6:c.936-21_936-18del ENSP00000369923.3:n.936-21_936-18del
ENST00000380567.5:c.636-21_636-18del ENSP00000369941.1:n.636-21_636-18del
ENST00000380567.6:c.*749-21_*749-18del ENSP00000369941.2:n.*749-21_*749-18del
ENST00000398395.7:c.525-21_525-18del ENSP00000381432.4:n.525-21_525-18del
ENST00000398395.8:c.*629-21_*629-18del ENSP00000381432.5:n.*629-21_*629-18del
ENST00000464463.6:n.1219-21_1219-18del
ENST00000490265.5:n.2010_2013del
ENST00000490265.6:n.1564_1567del
ENST00000682237.1:c.*595_*598del ENSP00000507121.1:n.*595_*598del
ENST00000682562.1:c.*749-21_*749-18del ENSP00000507874.1:n.*749-21_*749-18del
ENST00000682953.1:c.*1762_*1765del ENSP00000507878.1:n.*1762_*1765del
ENST00000683055.1:c.831-3231_831-3228del ENSP00000508191.1:n.831-3231_831-3228del
ENST00000683065.1:n.345-21_345-18del
ENST00000683284.1:c.*1266_*1269del ENSP00000507837.1:n.*1266_*1269del
ENST00000683427.1:c.936-3231_936-3228del ENSP00000507290.1:n.936-3231_936-3228del
ENST00000683454.1:n.1070-21_1070-18del
ENST00000683637.1:n.2144_2147del
ENST00000683655.1:c.*1249_*1252del ENSP00000506770.1:n.*1249_*1252del
ENST00000683713.1:c.*1266_*1269del ENSP00000507797.1:n.*1266_*1269del
ENST00000684577.1:c.*749-21_*749-18del ENSP00000507871.1:n.*749-21_*749-18del
XM_005274599.2:c.1077-21_1077-18del XP_005274656.1:n.1077-21_1077-18del
XM_005274602.2:c.1077-21_1077-18del XP_005274659.1:n.1077-21_1077-18del
XM_005274603.2:c.957-21_957-18del XP_005274660.1:n.957-21_957-18del
XM_005274604.2:c.936-21_936-18del XP_005274661.1:n.936-21_936-18del
XM_005274606.2:c.912-21_912-18del XP_005274663.1:n.912-21_912-18del
XM_005274606.4:c.912-21_912-18del XP_005274663.1:n.912-21_912-18del
XM_005274607.3:c.636-21_636-18del XP_005274664.1:n.636-21_636-18del
XM_011545591.1:c.1077-21_1077-18del XP_011543893.1:n.1077-21_1077-18del
XM_011545592.1:c.864-21_864-18del XP_011543894.1:n.864-21_864-18del
XM_011545592.3:c.864-21_864-18del XP_011543894.1:n.864-21_864-18del
XM_011545593.1:c.1077-21_1077-18del XP_011543895.1:n.1077-21_1077-18del
XM_011545594.1:c.735-21_735-18del XP_011543896.1:n.735-21_735-18del
XM_011545594.3:c.735-21_735-18del XP_011543896.1:n.735-21_735-18del
XM_011545595.1:c.735-21_735-18del XP_011543897.1:n.735-21_735-18del
XM_011545596.1:c.1077-21_1077-18del XP_011543898.1:n.1077-21_1077-18del
XM_011545597.1:c.636-21_636-18del XP_011543899.1:n.636-21_636-18del
XM_011545597.2:c.636-21_636-18del XP_011543899.1:n.636-21_636-18del
XM_011545598.1:c.-55+1979_-55+1982del XP_011543900.1:n.-55+1979_-55+1982del
XM_017029909.1:c.636-21_636-18del XP_016885398.1:n.636-21_636-18del
XM_017029911.1:c.114-21_114-18del XP_016885400.1:n.114-21_114-18del
XM_024452468.1:c.-241_-238del XP_024308236.1:n.-241_-238del
XM_024452469.1:c.-241_-238del XP_024308237.1:n.-241_-238del
XM_024452470.1:c.-241_-238del XP_024308238.1:n.-241_-238del
XM_024452471.1:c.-241_-238del XP_024308239.1:n.-241_-238del
XR_247288.2:n.1416-21_1416-18del