Canonical Allele Identifier: CA2573145670

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1430889
• ClinVar RCV Id: RCV001952564
• dbSNP Id: rs2132485761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86718111_86718112delinsAA , CM000672.2:g.86718111_86718112delinsAA	GRCh38
NC_000010.10:g.88477868_88477869delinsAA , CM000672.1:g.88477868_88477869delinsAA	GRCh37
NC_000010.9:g.88467848_88467849delinsAA	NCBI36
NG_008876.1:g.54548_54549delinsAA , LRG_385:g.54548_54549delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000687154.1:n.515-616_515-615delinsAA
ENST00000688001.1:c.1635_1636delinsAA	ENSP00000508987.1:p.Leu546Met
ENST00000689296.1:c.1635_1636delinsAA	ENSP00000510609.1:p.Leu546Met
ENST00000689740.1:c.1683_1684delinsAA	ENSP00000510300.1:p.Leu562Met
ENST00000693680.1:c.1683_1684delinsAA	ENSP00000509539.1:p.Leu562Met
ENST00000361373.9:c.1824_1825delinsAA MANE Select	ENSP00000355296.3:p.Leu609Met
ENST00000429277.7:c.1494_1495delinsAA	ENSP00000401437.3:p.Leu499Met
ENST00000623056.4:c.1839_1840delinsAA	ENSP00000485500.1:p.Leu614Met
ENST00000263066.10:c.1494_1495delinsAA	ENSP00000263066.6:p.Leu499Met
ENST00000361373.8:c.1824_1825delinsAA	ENSP00000355296.3:p.Leu609Met
ENST00000429277.6:c.1839_1840delinsAA	ENSP00000401437.2:p.Leu614Met
ENST00000623056.3:c.1839_1840delinsAA	ENSP00000485500.1:p.Leu614Met
NM_001080114.1:c.1494_1495delinsAA	NP_001073583.1:p.Leu499Met
NM_001171610.1:c.1839_1840delinsAA	NP_001165081.1:p.Leu614Met
NM_007078.2:c.1824_1825delinsAA , LRG_385t1:c.1824_1825delinsAA	NP_009009.1:p.Leu609Met
XM_005269464.3:c.1824_1825delinsAA	XP_005269521.1:p.Leu609Met
XM_005269466.3:c.1635_1636delinsAA	XP_005269523.1:p.Leu546Met
XM_011539184.1:c.2076_2077delinsAA	XP_011537486.1:p.Leu693Met
XM_011539185.1:c.2076_2077delinsAA	XP_011537487.1:p.Leu693Met
XM_011539186.1:c.2028_2029delinsAA	XP_011537488.1:p.Leu677Met
XM_011539187.1:c.1887_1888delinsAA	XP_011537489.1:p.Leu630Met
XM_011539188.1:c.1872_1873delinsAA	XP_011537490.1:p.Leu625Met
XM_011539189.1:c.1731_1732delinsAA	XP_011537491.1:p.Leu578Met
XM_011539190.1:c.1683_1684delinsAA	XP_011537492.1:p.Leu562Met
XM_011539191.1:c.1542_1543delinsAA	XP_011537493.1:p.Leu515Met
XM_011539192.1:c.1527_1528delinsAA	XP_011537494.1:p.Leu510Met
XM_011539193.1:c.1032_1033delinsAA	XP_011537495.1:p.Leu345Met
XM_011539194.1:c.843_844delinsAA	XP_011537496.1:p.Leu282Met
XM_005269464.4:c.1824_1825delinsAA	XP_005269521.1:p.Leu609Met
XM_005269466.4:c.1635_1636delinsAA	XP_005269523.1:p.Leu546Met
XM_011539184.2:c.2076_2077delinsAA	XP_011537486.1:p.Leu693Met
XM_011539185.2:c.2076_2077delinsAA	XP_011537487.1:p.Leu693Met
XM_011539186.2:c.2028_2029delinsAA	XP_011537488.1:p.Leu677Met
XM_011539187.2:c.1887_1888delinsAA	XP_011537489.1:p.Leu630Met
XM_011539188.2:c.1872_1873delinsAA	XP_011537490.1:p.Leu625Met
XM_011539190.2:c.1683_1684delinsAA	XP_011537492.1:p.Leu562Met
XM_011539191.2:c.1542_1543delinsAA	XP_011537493.1:p.Leu515Met
XM_017015606.1:c.1872_1873delinsAA	XP_016871095.1:p.Leu625Met
XM_017015607.1:c.1032_1033delinsAA	XP_016871096.1:p.Leu345Met
XM_024447785.1:c.1731_1732delinsAA	XP_024303553.1:p.Leu578Met
XM_024447786.1:c.1494_1495delinsAA	XP_024303554.1:p.Leu499Met
NM_001080114.2:c.1494_1495delinsAA	NP_001073583.1:p.Leu499Met
NM_001171610.2:c.1839_1840delinsAA	NP_001165081.1:p.Leu614Met
NM_001368064.1:c.1635_1636delinsAA	NP_001354993.1:p.Leu546Met
NM_001368065.1:c.1635_1636delinsAA	NP_001354994.1:p.Leu546Met
NM_001368066.1:c.1683_1684delinsAA	NP_001354995.1:p.Leu562Met
NM_007078.3:c.1824_1825delinsAA MANE Select	NP_009009.1:p.Leu609Met