Canonical Allele Identifier: CA2574457123
Gene: LDB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86716554del , CM000672.2:g.86716554del GRCh38
NC_000010.10:g.88476311del , CM000672.1:g.88476311del GRCh37
NC_000010.9:g.88466291del NCBI36
NG_008876.1:g.52991del , LRG_385:g.52991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000687154.1:n.515-2173del
ENST00000688001.1:c.1270del ENSP00000508987.1:p.Arg424ValfsTer5
ENST00000689296.1:c.1270del ENSP00000510609.1:p.Arg424ValfsTer5
ENST00000689740.1:c.1318del ENSP00000510300.1:p.Arg440ValfsTer5
ENST00000693680.1:c.1318del ENSP00000509539.1:p.Arg440ValfsTer5
ENST00000361373.9:c.1459del MANE Select ENSP00000355296.3:p.Arg487ValfsTer5
ENST00000429277.7:c.1129del ENSP00000401437.3:p.Arg377ValfsTer5
ENST00000623056.4:c.1474del ENSP00000485500.1:p.Arg492ValfsTer5
ENST00000263066.10:c.1129del ENSP00000263066.6:p.Arg377ValfsTer5
ENST00000361373.8:c.1459del ENSP00000355296.3:p.Arg487ValfsTer5
ENST00000429277.6:c.1474del ENSP00000401437.2:p.Arg492ValfsTer5
ENST00000623056.3:c.1474del ENSP00000485500.1:p.Arg492ValfsTer5
NM_001080114.1:c.1129del NP_001073583.1:p.Arg377ValfsTer5
NM_001171610.1:c.1474del NP_001165081.1:p.Arg492ValfsTer5
NM_007078.2:c.1459del , LRG_385t1:c.1459del NP_009009.1:p.Arg487ValfsTer5
XM_005269464.3:c.1459del XP_005269521.1:p.Arg487ValfsTer5
XM_005269466.3:c.1270del XP_005269523.1:p.Arg424ValfsTer5
XM_011539184.1:c.1711del XP_011537486.1:p.Arg571ValfsTer5
XM_011539185.1:c.1711del XP_011537487.1:p.Arg571ValfsTer5
XM_011539186.1:c.1663del XP_011537488.1:p.Arg555ValfsTer5
XM_011539187.1:c.1522del XP_011537489.1:p.Arg508ValfsTer5
XM_011539188.1:c.1507del XP_011537490.1:p.Arg503ValfsTer5
XM_011539189.1:c.1366del XP_011537491.1:p.Arg456ValfsTer5
XM_011539190.1:c.1318del XP_011537492.1:p.Arg440ValfsTer5
XM_011539191.1:c.1177del XP_011537493.1:p.Arg393ValfsTer5
XM_011539192.1:c.1162del XP_011537494.1:p.Arg388ValfsTer5
XM_011539193.1:c.667del XP_011537495.1:p.Arg223ValfsTer5
XM_011539194.1:c.478del XP_011537496.1:p.Arg160ValfsTer5
XM_005269464.4:c.1459del XP_005269521.1:p.Arg487ValfsTer5
XM_005269466.4:c.1270del XP_005269523.1:p.Arg424ValfsTer5
XM_011539184.2:c.1711del XP_011537486.1:p.Arg571ValfsTer5
XM_011539185.2:c.1711del XP_011537487.1:p.Arg571ValfsTer5
XM_011539186.2:c.1663del XP_011537488.1:p.Arg555ValfsTer5
XM_011539187.2:c.1522del XP_011537489.1:p.Arg508ValfsTer5
XM_011539188.2:c.1507del XP_011537490.1:p.Arg503ValfsTer5
XM_011539190.2:c.1318del XP_011537492.1:p.Arg440ValfsTer5
XM_011539191.2:c.1177del XP_011537493.1:p.Arg393ValfsTer5
XM_017015606.1:c.1507del XP_016871095.1:p.Arg503ValfsTer5
XM_017015607.1:c.667del XP_016871096.1:p.Arg223ValfsTer5
XM_024447785.1:c.1366del XP_024303553.1:p.Arg456ValfsTer5
XM_024447786.1:c.1129del XP_024303554.1:p.Arg377ValfsTer5
NM_001080114.2:c.1129del NP_001073583.1:p.Arg377ValfsTer5
NM_001171610.2:c.1474del NP_001165081.1:p.Arg492ValfsTer5
NM_001368064.1:c.1270del NP_001354993.1:p.Arg424ValfsTer5
NM_001368065.1:c.1270del NP_001354994.1:p.Arg424ValfsTer5
NM_001368066.1:c.1318del NP_001354995.1:p.Arg440ValfsTer5
NM_007078.3:c.1459del MANE Select NP_009009.1:p.Arg487ValfsTer5