Canonical Allele Identifier: CA5585175

Gene: LDB3

Linked Data

• dbSNP Id: rs761004784
• ExAC: 10:88476367 CA / C
• gnomAD v2: 10-88476367-CA-C
• gnomAD v3: 10-86716610-CA-C
• gnomAD v4: 10-86716610-CA-C
• MyVariant Identifiers: chr10:g.88476368del (hg19) ; chr10:g.86716611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716611del , CM000672.2:g.86716611del	GRCh38
NC_000010.10:g.88476368del , CM000672.1:g.88476368del	GRCh37
NC_000010.9:g.88466348del	NCBI36
NG_008876.1:g.53048del , LRG_385:g.53048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2116del
ENST00000688001.1:c.1327del	ENSP00000508987.1:p.Thr443ProfsTer?
ENST00000689296.1:c.1327del	ENSP00000510609.1:p.Thr443ProfsTer?
ENST00000689740.1:c.1375del	ENSP00000510300.1:p.Thr459ProfsTer?
ENST00000693680.1:c.1375del	ENSP00000509539.1:p.Thr459ProfsTer?
ENST00000361373.9:c.1516del MANE Select	ENSP00000355296.3:p.Thr506ProfsTer?
ENST00000429277.7:c.1186del	ENSP00000401437.3:p.Thr396ProfsTer?
ENST00000623056.4:c.1531del	ENSP00000485500.1:p.Thr511ProfsTer?
ENST00000263066.10:c.1186del	ENSP00000263066.6:p.Thr396ProfsTer?
ENST00000361373.8:c.1516del	ENSP00000355296.3:p.Thr506ProfsTer?
ENST00000429277.6:c.1531del	ENSP00000401437.2:p.Thr511ProfsTer?
ENST00000623056.3:c.1531del	ENSP00000485500.1:p.Thr511ProfsTer?
NM_001080114.1:c.1186del	NP_001073583.1:p.Thr396ProfsTer?
NM_001171610.1:c.1531del	NP_001165081.1:p.Thr511ProfsTer?
NM_007078.2:c.1516del , LRG_385t1:c.1516del	NP_009009.1:p.Thr506ProfsTer?
XM_005269464.3:c.1516del	XP_005269521.1:p.Thr506ProfsTer?
XM_005269466.3:c.1327del	XP_005269523.1:p.Thr443ProfsTer?
XM_011539184.1:c.1768del	XP_011537486.1:p.Thr590ProfsTer?
XM_011539185.1:c.1768del	XP_011537487.1:p.Thr590ProfsTer?
XM_011539186.1:c.1720del	XP_011537488.1:p.Thr574ProfsTer?
XM_011539187.1:c.1579del	XP_011537489.1:p.Thr527ProfsTer?
XM_011539188.1:c.1564del	XP_011537490.1:p.Thr522ProfsTer?
XM_011539189.1:c.1423del	XP_011537491.1:p.Thr475ProfsTer?
XM_011539190.1:c.1375del	XP_011537492.1:p.Thr459ProfsTer?
XM_011539191.1:c.1234del	XP_011537493.1:p.Thr412ProfsTer?
XM_011539192.1:c.1219del	XP_011537494.1:p.Thr407ProfsTer?
XM_011539193.1:c.724del	XP_011537495.1:p.Thr242ProfsTer?
XM_011539194.1:c.535del	XP_011537496.1:p.Thr179ProfsTer?
XM_005269464.4:c.1516del	XP_005269521.1:p.Thr506ProfsTer?
XM_005269466.4:c.1327del	XP_005269523.1:p.Thr443ProfsTer?
XM_011539184.2:c.1768del	XP_011537486.1:p.Thr590ProfsTer?
XM_011539185.2:c.1768del	XP_011537487.1:p.Thr590ProfsTer?
XM_011539186.2:c.1720del	XP_011537488.1:p.Thr574ProfsTer?
XM_011539187.2:c.1579del	XP_011537489.1:p.Thr527ProfsTer?
XM_011539188.2:c.1564del	XP_011537490.1:p.Thr522ProfsTer?
XM_011539190.2:c.1375del	XP_011537492.1:p.Thr459ProfsTer?
XM_011539191.2:c.1234del	XP_011537493.1:p.Thr412ProfsTer?
XM_017015606.1:c.1564del	XP_016871095.1:p.Thr522ProfsTer?
XM_017015607.1:c.724del	XP_016871096.1:p.Thr242ProfsTer?
XM_024447785.1:c.1423del	XP_024303553.1:p.Thr475ProfsTer?
XM_024447786.1:c.1186del	XP_024303554.1:p.Thr396ProfsTer?
NM_001080114.2:c.1186del	NP_001073583.1:p.Thr396ProfsTer?
NM_001171610.2:c.1531del	NP_001165081.1:p.Thr511ProfsTer?
NM_001368064.1:c.1327del	NP_001354993.1:p.Thr443ProfsTer?
NM_001368065.1:c.1327del	NP_001354994.1:p.Thr443ProfsTer?
NM_001368066.1:c.1375del	NP_001354995.1:p.Thr459ProfsTer?
NM_007078.3:c.1516del MANE Select	NP_009009.1:p.Thr506ProfsTer?