Canonical Allele Identifier: CA1925631999

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1965173
• ClinVar RCV Id: RCV002726606
• dbSNP Id: rs1439289414

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716697_86716698insTGCCAC , CM000672.2:g.86716697_86716698insTGCCAC	GRCh38
NC_000010.10:g.88476454_88476455insTGCCAC , CM000672.1:g.88476454_88476455insTGCCAC	GRCh37
NC_000010.9:g.88466434_88466435insTGCCAC	NCBI36
NG_008876.1:g.53134_53135insTGCCAC , LRG_385:g.53134_53135insTGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2030_515-2029insTGCCAC
ENST00000688001.1:c.1413_1414insTGCCAC	ENSP00000508987.1:p.Gly471_Thr472insCysHis
ENST00000689296.1:c.1413_1414insTGCCAC	ENSP00000510609.1:p.Gly471_Thr472insCysHis
ENST00000689740.1:c.1461_1462insTGCCAC	ENSP00000510300.1:p.Gly487_Thr488insCysHis
ENST00000693680.1:c.1461_1462insTGCCAC	ENSP00000509539.1:p.Gly487_Thr488insCysHis
ENST00000361373.9:c.1602_1603insTGCCAC MANE Select	ENSP00000355296.3:p.Gly534_Thr535insCysHis
ENST00000429277.7:c.1272_1273insTGCCAC	ENSP00000401437.3:p.Gly424_Thr425insCysHis
ENST00000623056.4:c.1617_1618insTGCCAC	ENSP00000485500.1:p.Gly539_Thr540insCysHis
ENST00000263066.10:c.1272_1273insTGCCAC	ENSP00000263066.6:p.Gly424_Thr425insCysHis
ENST00000361373.8:c.1602_1603insTGCCAC	ENSP00000355296.3:p.Gly534_Thr535insCysHis
ENST00000429277.6:c.1617_1618insTGCCAC	ENSP00000401437.2:p.Gly539_Thr540insCysHis
ENST00000623056.3:c.1617_1618insTGCCAC	ENSP00000485500.1:p.Gly539_Thr540insCysHis
NM_001080114.1:c.1272_1273insTGCCAC	NP_001073583.1:p.Gly424_Thr425insCysHis
NM_001171610.1:c.1617_1618insTGCCAC	NP_001165081.1:p.Gly539_Thr540insCysHis
NM_007078.2:c.1602_1603insTGCCAC , LRG_385t1:c.1602_1603insTGCCAC	NP_009009.1:p.Gly534_Thr535insCysHis
XM_005269464.3:c.1602_1603insTGCCAC	XP_005269521.1:p.Gly534_Thr535insCysHis
XM_005269466.3:c.1413_1414insTGCCAC	XP_005269523.1:p.Gly471_Thr472insCysHis
XM_011539184.1:c.1854_1855insTGCCAC	XP_011537486.1:p.Gly618_Thr619insCysHis
XM_011539185.1:c.1854_1855insTGCCAC	XP_011537487.1:p.Gly618_Thr619insCysHis
XM_011539186.1:c.1806_1807insTGCCAC	XP_011537488.1:p.Gly602_Thr603insCysHis
XM_011539187.1:c.1665_1666insTGCCAC	XP_011537489.1:p.Gly555_Thr556insCysHis
XM_011539188.1:c.1650_1651insTGCCAC	XP_011537490.1:p.Gly550_Thr551insCysHis
XM_011539189.1:c.1509_1510insTGCCAC	XP_011537491.1:p.Gly503_Thr504insCysHis
XM_011539190.1:c.1461_1462insTGCCAC	XP_011537492.1:p.Gly487_Thr488insCysHis
XM_011539191.1:c.1320_1321insTGCCAC	XP_011537493.1:p.Gly440_Thr441insCysHis
XM_011539192.1:c.1305_1306insTGCCAC	XP_011537494.1:p.Gly435_Thr436insCysHis
XM_011539193.1:c.810_811insTGCCAC	XP_011537495.1:p.Gly270_Thr271insCysHis
XM_011539194.1:c.621_622insTGCCAC	XP_011537496.1:p.Gly207_Thr208insCysHis
XM_005269464.4:c.1602_1603insTGCCAC	XP_005269521.1:p.Gly534_Thr535insCysHis
XM_005269466.4:c.1413_1414insTGCCAC	XP_005269523.1:p.Gly471_Thr472insCysHis
XM_011539184.2:c.1854_1855insTGCCAC	XP_011537486.1:p.Gly618_Thr619insCysHis
XM_011539185.2:c.1854_1855insTGCCAC	XP_011537487.1:p.Gly618_Thr619insCysHis
XM_011539186.2:c.1806_1807insTGCCAC	XP_011537488.1:p.Gly602_Thr603insCysHis
XM_011539187.2:c.1665_1666insTGCCAC	XP_011537489.1:p.Gly555_Thr556insCysHis
XM_011539188.2:c.1650_1651insTGCCAC	XP_011537490.1:p.Gly550_Thr551insCysHis
XM_011539190.2:c.1461_1462insTGCCAC	XP_011537492.1:p.Gly487_Thr488insCysHis
XM_011539191.2:c.1320_1321insTGCCAC	XP_011537493.1:p.Gly440_Thr441insCysHis
XM_017015606.1:c.1650_1651insTGCCAC	XP_016871095.1:p.Gly550_Thr551insCysHis
XM_017015607.1:c.810_811insTGCCAC	XP_016871096.1:p.Gly270_Thr271insCysHis
XM_024447785.1:c.1509_1510insTGCCAC	XP_024303553.1:p.Gly503_Thr504insCysHis
XM_024447786.1:c.1272_1273insTGCCAC	XP_024303554.1:p.Gly424_Thr425insCysHis
NM_001080114.2:c.1272_1273insTGCCAC	NP_001073583.1:p.Gly424_Thr425insCysHis
NM_001171610.2:c.1617_1618insTGCCAC	NP_001165081.1:p.Gly539_Thr540insCysHis
NM_001368064.1:c.1413_1414insTGCCAC	NP_001354993.1:p.Gly471_Thr472insCysHis
NM_001368065.1:c.1413_1414insTGCCAC	NP_001354994.1:p.Gly471_Thr472insCysHis
NM_001368066.1:c.1461_1462insTGCCAC	NP_001354995.1:p.Gly487_Thr488insCysHis
NM_007078.3:c.1602_1603insTGCCAC MANE Select	NP_009009.1:p.Gly534_Thr535insCysHis