Canonical Allele Identifier: CA2580615532

Gene: LDB3

Linked Data

• ClinVar Variation Id: 2504036
• ClinVar RCV Id: RCV003231027
• gnomAD v4: 10-86716691-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716692del , CM000672.2:g.86716692del	GRCh38
NC_000010.10:g.88476449del , CM000672.1:g.88476449del	GRCh37
NC_000010.9:g.88466429del	NCBI36
NG_008876.1:g.53129del , LRG_385:g.53129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2035del
ENST00000688001.1:c.1408del	ENSP00000508987.1:p.Arg470GlyfsTer?
ENST00000689296.1:c.1408del	ENSP00000510609.1:p.Arg470GlyfsTer?
ENST00000689740.1:c.1456del	ENSP00000510300.1:p.Arg486GlyfsTer?
ENST00000693680.1:c.1456del	ENSP00000509539.1:p.Arg486GlyfsTer?
ENST00000361373.9:c.1597del MANE Select	ENSP00000355296.3:p.Arg533GlyfsTer?
ENST00000429277.7:c.1267del	ENSP00000401437.3:p.Arg423GlyfsTer?
ENST00000623056.4:c.1612del	ENSP00000485500.1:p.Arg538GlyfsTer?
ENST00000263066.10:c.1267del	ENSP00000263066.6:p.Arg423GlyfsTer?
ENST00000361373.8:c.1597del	ENSP00000355296.3:p.Arg533GlyfsTer?
ENST00000429277.6:c.1612del	ENSP00000401437.2:p.Arg538GlyfsTer?
ENST00000623056.3:c.1612del	ENSP00000485500.1:p.Arg538GlyfsTer?
NM_001080114.1:c.1267del	NP_001073583.1:p.Arg423GlyfsTer?
NM_001171610.1:c.1612del	NP_001165081.1:p.Arg538GlyfsTer?
NM_007078.2:c.1597del , LRG_385t1:c.1597del	NP_009009.1:p.Arg533GlyfsTer?
XM_005269464.3:c.1597del	XP_005269521.1:p.Arg533GlyfsTer?
XM_005269466.3:c.1408del	XP_005269523.1:p.Arg470GlyfsTer?
XM_011539184.1:c.1849del	XP_011537486.1:p.Arg617GlyfsTer?
XM_011539185.1:c.1849del	XP_011537487.1:p.Arg617GlyfsTer?
XM_011539186.1:c.1801del	XP_011537488.1:p.Arg601GlyfsTer?
XM_011539187.1:c.1660del	XP_011537489.1:p.Arg554GlyfsTer?
XM_011539188.1:c.1645del	XP_011537490.1:p.Arg549GlyfsTer?
XM_011539189.1:c.1504del	XP_011537491.1:p.Arg502GlyfsTer?
XM_011539190.1:c.1456del	XP_011537492.1:p.Arg486GlyfsTer?
XM_011539191.1:c.1315del	XP_011537493.1:p.Arg439GlyfsTer?
XM_011539192.1:c.1300del	XP_011537494.1:p.Arg434GlyfsTer?
XM_011539193.1:c.805del	XP_011537495.1:p.Arg269GlyfsTer?
XM_011539194.1:c.616del	XP_011537496.1:p.Arg206GlyfsTer?
XM_005269464.4:c.1597del	XP_005269521.1:p.Arg533GlyfsTer?
XM_005269466.4:c.1408del	XP_005269523.1:p.Arg470GlyfsTer?
XM_011539184.2:c.1849del	XP_011537486.1:p.Arg617GlyfsTer?
XM_011539185.2:c.1849del	XP_011537487.1:p.Arg617GlyfsTer?
XM_011539186.2:c.1801del	XP_011537488.1:p.Arg601GlyfsTer?
XM_011539187.2:c.1660del	XP_011537489.1:p.Arg554GlyfsTer?
XM_011539188.2:c.1645del	XP_011537490.1:p.Arg549GlyfsTer?
XM_011539190.2:c.1456del	XP_011537492.1:p.Arg486GlyfsTer?
XM_011539191.2:c.1315del	XP_011537493.1:p.Arg439GlyfsTer?
XM_017015606.1:c.1645del	XP_016871095.1:p.Arg549GlyfsTer?
XM_017015607.1:c.805del	XP_016871096.1:p.Arg269GlyfsTer?
XM_024447785.1:c.1504del	XP_024303553.1:p.Arg502GlyfsTer?
XM_024447786.1:c.1267del	XP_024303554.1:p.Arg423GlyfsTer?
NM_001080114.2:c.1267del	NP_001073583.1:p.Arg423GlyfsTer?
NM_001171610.2:c.1612del	NP_001165081.1:p.Arg538GlyfsTer?
NM_001368064.1:c.1408del	NP_001354993.1:p.Arg470GlyfsTer?
NM_001368065.1:c.1408del	NP_001354994.1:p.Arg470GlyfsTer?
NM_001368066.1:c.1456del	NP_001354995.1:p.Arg486GlyfsTer?
NM_007078.3:c.1597del MANE Select	NP_009009.1:p.Arg533GlyfsTer?