Canonical Allele Identifier: CA915947521

Gene: LDB3

Linked Data

• ClinVar Variation Id: 659124
• ClinVar RCV Id: RCV000816073 ; RCV002397697 ; RCV002487795
• dbSNP Id: rs1589675306

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716698_86716700delinsTGCCACTCA , CM000672.2:g.86716698_86716700delinsTGCCACTCA	GRCh38
NC_000010.10:g.88476455_88476457delinsTGCCACTCA , CM000672.1:g.88476455_88476457delinsTGCCACTCA	GRCh37
NC_000010.9:g.88466435_88466437delinsTGCCACTCA	NCBI36
NG_008876.1:g.53135_53137delinsTGCCACTCA , LRG_385:g.53135_53137delinsTGCCACTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2029_515-2027delinsTGCCACTCA
ENST00000688001.1:c.1414_1416delinsTGCCACTCA	ENSP00000508987.1:p.Thr472delinsCysHisSer
ENST00000689296.1:c.1414_1416delinsTGCCACTCA	ENSP00000510609.1:p.Thr472delinsCysHisSer
ENST00000689740.1:c.1462_1464delinsTGCCACTCA	ENSP00000510300.1:p.Thr488delinsCysHisSer
ENST00000693680.1:c.1462_1464delinsTGCCACTCA	ENSP00000509539.1:p.Thr488delinsCysHisSer
ENST00000361373.9:c.1603_1605delinsTGCCACTCA MANE Select	ENSP00000355296.3:p.Thr535delinsCysHisSer
ENST00000429277.7:c.1273_1275delinsTGCCACTCA	ENSP00000401437.3:p.Thr425delinsCysHisSer
ENST00000623056.4:c.1618_1620delinsTGCCACTCA	ENSP00000485500.1:p.Thr540delinsCysHisSer
ENST00000263066.10:c.1273_1275delinsTGCCACTCA	ENSP00000263066.6:p.Thr425delinsCysHisSer
ENST00000361373.8:c.1603_1605delinsTGCCACTCA	ENSP00000355296.3:p.Thr535delinsCysHisSer
ENST00000429277.6:c.1618_1620delinsTGCCACTCA	ENSP00000401437.2:p.Thr540delinsCysHisSer
ENST00000623056.3:c.1618_1620delinsTGCCACTCA	ENSP00000485500.1:p.Thr540delinsCysHisSer
NM_001080114.1:c.1273_1275delinsTGCCACTCA	NP_001073583.1:p.Thr425delinsCysHisSer
NM_001171610.1:c.1618_1620delinsTGCCACTCA	NP_001165081.1:p.Thr540delinsCysHisSer
NM_007078.2:c.1603_1605delinsTGCCACTCA , LRG_385t1:c.1603_1605delinsTGCCACTCA	NP_009009.1:p.Thr535delinsCysHisSer
XM_005269464.3:c.1603_1605delinsTGCCACTCA	XP_005269521.1:p.Thr535delinsCysHisSer
XM_005269466.3:c.1414_1416delinsTGCCACTCA	XP_005269523.1:p.Thr472delinsCysHisSer
XM_011539184.1:c.1855_1857delinsTGCCACTCA	XP_011537486.1:p.Thr619delinsCysHisSer
XM_011539185.1:c.1855_1857delinsTGCCACTCA	XP_011537487.1:p.Thr619delinsCysHisSer
XM_011539186.1:c.1807_1809delinsTGCCACTCA	XP_011537488.1:p.Thr603delinsCysHisSer
XM_011539187.1:c.1666_1668delinsTGCCACTCA	XP_011537489.1:p.Thr556delinsCysHisSer
XM_011539188.1:c.1651_1653delinsTGCCACTCA	XP_011537490.1:p.Thr551delinsCysHisSer
XM_011539189.1:c.1510_1512delinsTGCCACTCA	XP_011537491.1:p.Thr504delinsCysHisSer
XM_011539190.1:c.1462_1464delinsTGCCACTCA	XP_011537492.1:p.Thr488delinsCysHisSer
XM_011539191.1:c.1321_1323delinsTGCCACTCA	XP_011537493.1:p.Thr441delinsCysHisSer
XM_011539192.1:c.1306_1308delinsTGCCACTCA	XP_011537494.1:p.Thr436delinsCysHisSer
XM_011539193.1:c.811_813delinsTGCCACTCA	XP_011537495.1:p.Thr271delinsCysHisSer
XM_011539194.1:c.622_624delinsTGCCACTCA	XP_011537496.1:p.Thr208delinsCysHisSer
XM_005269464.4:c.1603_1605delinsTGCCACTCA	XP_005269521.1:p.Thr535delinsCysHisSer
XM_005269466.4:c.1414_1416delinsTGCCACTCA	XP_005269523.1:p.Thr472delinsCysHisSer
XM_011539184.2:c.1855_1857delinsTGCCACTCA	XP_011537486.1:p.Thr619delinsCysHisSer
XM_011539185.2:c.1855_1857delinsTGCCACTCA	XP_011537487.1:p.Thr619delinsCysHisSer
XM_011539186.2:c.1807_1809delinsTGCCACTCA	XP_011537488.1:p.Thr603delinsCysHisSer
XM_011539187.2:c.1666_1668delinsTGCCACTCA	XP_011537489.1:p.Thr556delinsCysHisSer
XM_011539188.2:c.1651_1653delinsTGCCACTCA	XP_011537490.1:p.Thr551delinsCysHisSer
XM_011539190.2:c.1462_1464delinsTGCCACTCA	XP_011537492.1:p.Thr488delinsCysHisSer
XM_011539191.2:c.1321_1323delinsTGCCACTCA	XP_011537493.1:p.Thr441delinsCysHisSer
XM_017015606.1:c.1651_1653delinsTGCCACTCA	XP_016871095.1:p.Thr551delinsCysHisSer
XM_017015607.1:c.811_813delinsTGCCACTCA	XP_016871096.1:p.Thr271delinsCysHisSer
XM_024447785.1:c.1510_1512delinsTGCCACTCA	XP_024303553.1:p.Thr504delinsCysHisSer
XM_024447786.1:c.1273_1275delinsTGCCACTCA	XP_024303554.1:p.Thr425delinsCysHisSer
NM_001080114.2:c.1273_1275delinsTGCCACTCA	NP_001073583.1:p.Thr425delinsCysHisSer
NM_001171610.2:c.1618_1620delinsTGCCACTCA	NP_001165081.1:p.Thr540delinsCysHisSer
NM_001368064.1:c.1414_1416delinsTGCCACTCA	NP_001354993.1:p.Thr472delinsCysHisSer
NM_001368065.1:c.1414_1416delinsTGCCACTCA	NP_001354994.1:p.Thr472delinsCysHisSer
NM_001368066.1:c.1462_1464delinsTGCCACTCA	NP_001354995.1:p.Thr488delinsCysHisSer
NM_007078.3:c.1603_1605delinsTGCCACTCA MANE Select	NP_009009.1:p.Thr535delinsCysHisSer