Canonical Allele Identifier: CA930816424

Gene: LDB3

Linked Data

• dbSNP Id: rs1846887601
• gnomAD v3: 10-86716644-G-GGAGGCCCAGCCTACACCCCAGC
• gnomAD v4: 10-86716644-G-GGAGGCCCAGCCTACACCCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716646_86716667dup , CM000672.2:g.86716646_86716667dup	GRCh38
NC_000010.10:g.88476403_88476424dup , CM000672.1:g.88476403_88476424dup	GRCh37
NC_000010.9:g.88466383_88466404dup	NCBI36
NG_008876.1:g.53083_53104dup , LRG_385:g.53083_53104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2081_515-2060dup
ENST00000688001.1:c.1362_1383dup	ENSP00000508987.1:p.Gly462ArgfsTer23
ENST00000689296.1:c.1362_1383dup	ENSP00000510609.1:p.Gly462ArgfsTer23
ENST00000689740.1:c.1410_1431dup	ENSP00000510300.1:p.Gly478ArgfsTer23
ENST00000693680.1:c.1410_1431dup	ENSP00000509539.1:p.Gly478ArgfsTer23
ENST00000361373.9:c.1551_1572dup MANE Select	ENSP00000355296.3:p.Gly525ArgfsTer23
ENST00000429277.7:c.1221_1242dup	ENSP00000401437.3:p.Gly415ArgfsTer23
ENST00000623056.4:c.1566_1587dup	ENSP00000485500.1:p.Gly530ArgfsTer23
ENST00000263066.10:c.1221_1242dup	ENSP00000263066.6:p.Gly415ArgfsTer23
ENST00000361373.8:c.1551_1572dup	ENSP00000355296.3:p.Gly525ArgfsTer23
ENST00000429277.6:c.1566_1587dup	ENSP00000401437.2:p.Gly530ArgfsTer23
ENST00000623056.3:c.1566_1587dup	ENSP00000485500.1:p.Gly530ArgfsTer23
NM_001080114.1:c.1221_1242dup	NP_001073583.1:p.Gly415ArgfsTer23
NM_001171610.1:c.1566_1587dup	NP_001165081.1:p.Gly530ArgfsTer23
NM_007078.2:c.1551_1572dup , LRG_385t1:c.1551_1572dup	NP_009009.1:p.Gly525ArgfsTer23
XM_005269464.3:c.1551_1572dup	XP_005269521.1:p.Gly525ArgfsTer23
XM_005269466.3:c.1362_1383dup	XP_005269523.1:p.Gly462ArgfsTer23
XM_011539184.1:c.1803_1824dup	XP_011537486.1:p.Gly609ArgfsTer23
XM_011539185.1:c.1803_1824dup	XP_011537487.1:p.Gly609ArgfsTer23
XM_011539186.1:c.1755_1776dup	XP_011537488.1:p.Gly593ArgfsTer23
XM_011539187.1:c.1614_1635dup	XP_011537489.1:p.Gly546ArgfsTer23
XM_011539188.1:c.1599_1620dup	XP_011537490.1:p.Gly541ArgfsTer23
XM_011539189.1:c.1458_1479dup	XP_011537491.1:p.Gly494ArgfsTer23
XM_011539190.1:c.1410_1431dup	XP_011537492.1:p.Gly478ArgfsTer23
XM_011539191.1:c.1269_1290dup	XP_011537493.1:p.Gly431ArgfsTer23
XM_011539192.1:c.1254_1275dup	XP_011537494.1:p.Gly426ArgfsTer23
XM_011539193.1:c.759_780dup	XP_011537495.1:p.Gly261ArgfsTer23
XM_011539194.1:c.570_591dup	XP_011537496.1:p.Gly198ArgfsTer23
XM_005269464.4:c.1551_1572dup	XP_005269521.1:p.Gly525ArgfsTer23
XM_005269466.4:c.1362_1383dup	XP_005269523.1:p.Gly462ArgfsTer23
XM_011539184.2:c.1803_1824dup	XP_011537486.1:p.Gly609ArgfsTer23
XM_011539185.2:c.1803_1824dup	XP_011537487.1:p.Gly609ArgfsTer23
XM_011539186.2:c.1755_1776dup	XP_011537488.1:p.Gly593ArgfsTer23
XM_011539187.2:c.1614_1635dup	XP_011537489.1:p.Gly546ArgfsTer23
XM_011539188.2:c.1599_1620dup	XP_011537490.1:p.Gly541ArgfsTer23
XM_011539190.2:c.1410_1431dup	XP_011537492.1:p.Gly478ArgfsTer23
XM_011539191.2:c.1269_1290dup	XP_011537493.1:p.Gly431ArgfsTer23
XM_017015606.1:c.1599_1620dup	XP_016871095.1:p.Gly541ArgfsTer23
XM_017015607.1:c.759_780dup	XP_016871096.1:p.Gly261ArgfsTer23
XM_024447785.1:c.1458_1479dup	XP_024303553.1:p.Gly494ArgfsTer23
XM_024447786.1:c.1221_1242dup	XP_024303554.1:p.Gly415ArgfsTer23
NM_001080114.2:c.1221_1242dup	NP_001073583.1:p.Gly415ArgfsTer23
NM_001171610.2:c.1566_1587dup	NP_001165081.1:p.Gly530ArgfsTer23
NM_001368064.1:c.1362_1383dup	NP_001354993.1:p.Gly462ArgfsTer23
NM_001368065.1:c.1362_1383dup	NP_001354994.1:p.Gly462ArgfsTer23
NM_001368066.1:c.1410_1431dup	NP_001354995.1:p.Gly478ArgfsTer23
NM_007078.3:c.1551_1572dup MANE Select	NP_009009.1:p.Gly525ArgfsTer23