Canonical Allele Identifier: CA912970482

Gene: LDB3

Linked Data

• ClinVar Variation Id: 971105
• ClinVar RCV Id: RCV001246801 ; RCV001568761 ; RCV002402786
• dbSNP Id: rs1846890164
• MyVariant Identifiers: chr10:g.88476449_88476450insGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716696_86716697dup , CM000672.2:g.86716696_86716697dup	GRCh38
NC_000010.10:g.88476453_88476454dup , CM000672.1:g.88476453_88476454dup	GRCh37
NC_000010.9:g.88466433_88466434dup	NCBI36
NG_008876.1:g.53133_53134dup , LRG_385:g.53133_53134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2031_515-2030dup
ENST00000688001.1:c.1412_1413dup	ENSP00000508987.1:p.Thr472GlyfsTer?
ENST00000689296.1:c.1412_1413dup	ENSP00000510609.1:p.Thr472GlyfsTer?
ENST00000689740.1:c.1460_1461dup	ENSP00000510300.1:p.Thr488GlyfsTer?
ENST00000693680.1:c.1460_1461dup	ENSP00000509539.1:p.Thr488GlyfsTer?
ENST00000361373.9:c.1601_1602dup MANE Select	ENSP00000355296.3:p.Thr535GlyfsTer?
ENST00000429277.7:c.1271_1272dup	ENSP00000401437.3:p.Thr425GlyfsTer?
ENST00000623056.4:c.1616_1617dup	ENSP00000485500.1:p.Thr540GlyfsTer?
ENST00000263066.10:c.1271_1272dup	ENSP00000263066.6:p.Thr425GlyfsTer?
ENST00000361373.8:c.1601_1602dup	ENSP00000355296.3:p.Thr535GlyfsTer?
ENST00000429277.6:c.1616_1617dup	ENSP00000401437.2:p.Thr540GlyfsTer?
ENST00000623056.3:c.1616_1617dup	ENSP00000485500.1:p.Thr540GlyfsTer?
NM_001080114.1:c.1271_1272dup	NP_001073583.1:p.Thr425GlyfsTer?
NM_001171610.1:c.1616_1617dup	NP_001165081.1:p.Thr540GlyfsTer?
NM_007078.2:c.1601_1602dup , LRG_385t1:c.1601_1602dup	NP_009009.1:p.Thr535GlyfsTer?
XM_005269464.3:c.1601_1602dup	XP_005269521.1:p.Thr535GlyfsTer?
XM_005269466.3:c.1412_1413dup	XP_005269523.1:p.Thr472GlyfsTer?
XM_011539184.1:c.1853_1854dup	XP_011537486.1:p.Thr619GlyfsTer?
XM_011539185.1:c.1853_1854dup	XP_011537487.1:p.Thr619GlyfsTer?
XM_011539186.1:c.1805_1806dup	XP_011537488.1:p.Thr603GlyfsTer?
XM_011539187.1:c.1664_1665dup	XP_011537489.1:p.Thr556GlyfsTer?
XM_011539188.1:c.1649_1650dup	XP_011537490.1:p.Thr551GlyfsTer?
XM_011539189.1:c.1508_1509dup	XP_011537491.1:p.Thr504GlyfsTer?
XM_011539190.1:c.1460_1461dup	XP_011537492.1:p.Thr488GlyfsTer?
XM_011539191.1:c.1319_1320dup	XP_011537493.1:p.Thr441GlyfsTer?
XM_011539192.1:c.1304_1305dup	XP_011537494.1:p.Thr436GlyfsTer?
XM_011539193.1:c.809_810dup	XP_011537495.1:p.Thr271GlyfsTer?
XM_011539194.1:c.620_621dup	XP_011537496.1:p.Thr208GlyfsTer?
XM_005269464.4:c.1601_1602dup	XP_005269521.1:p.Thr535GlyfsTer?
XM_005269466.4:c.1412_1413dup	XP_005269523.1:p.Thr472GlyfsTer?
XM_011539184.2:c.1853_1854dup	XP_011537486.1:p.Thr619GlyfsTer?
XM_011539185.2:c.1853_1854dup	XP_011537487.1:p.Thr619GlyfsTer?
XM_011539186.2:c.1805_1806dup	XP_011537488.1:p.Thr603GlyfsTer?
XM_011539187.2:c.1664_1665dup	XP_011537489.1:p.Thr556GlyfsTer?
XM_011539188.2:c.1649_1650dup	XP_011537490.1:p.Thr551GlyfsTer?
XM_011539190.2:c.1460_1461dup	XP_011537492.1:p.Thr488GlyfsTer?
XM_011539191.2:c.1319_1320dup	XP_011537493.1:p.Thr441GlyfsTer?
XM_017015606.1:c.1649_1650dup	XP_016871095.1:p.Thr551GlyfsTer?
XM_017015607.1:c.809_810dup	XP_016871096.1:p.Thr271GlyfsTer?
XM_024447785.1:c.1508_1509dup	XP_024303553.1:p.Thr504GlyfsTer?
XM_024447786.1:c.1271_1272dup	XP_024303554.1:p.Thr425GlyfsTer?
NM_001080114.2:c.1271_1272dup	NP_001073583.1:p.Thr425GlyfsTer?
NM_001171610.2:c.1616_1617dup	NP_001165081.1:p.Thr540GlyfsTer?
NM_001368064.1:c.1412_1413dup	NP_001354993.1:p.Thr472GlyfsTer?
NM_001368065.1:c.1412_1413dup	NP_001354994.1:p.Thr472GlyfsTer?
NM_001368066.1:c.1460_1461dup	NP_001354995.1:p.Thr488GlyfsTer?
NM_007078.3:c.1601_1602dup MANE Select	NP_009009.1:p.Thr535GlyfsTer?