Canonical Allele Identifier: CA5585015

Gene: LDB3

Linked Data

• dbSNP Id: rs773125476
• ExAC: 10:88466316 A / ACCAGCCAGGCCACCACCCCGCTGCTGC
• gnomAD v2: 10-88466316-A-ACCAGCCAGGCCACCACCCCGCTGCTGC
• gnomAD v4: 10-86706559-A-ACCAGCCAGGCCACCACCCCGCTGCTGC
• MyVariant Identifiers: chr10:g.88466316_88466317insCCAGCCAGGCCACCACCCCGCTGCTGC (hg19) ; chr10:g.86706559_86706560insCCAGCCAGGCCACCACCCCGCTGCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86706562_86706588dup , CM000672.2:g.86706562_86706588dup	GRCh38
NC_000010.10:g.88466319_88466345dup , CM000672.1:g.88466319_88466345dup	GRCh37
NC_000010.9:g.88456299_88456325dup	NCBI36
NG_008876.1:g.42999_43025dup , LRG_385:g.42999_43025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-12165_515-12139dup
ENST00000688001.1:c.897-3343_897-3317dup	ENSP00000508987.1:n.897-3343_897-3317dup
ENST00000689296.1:c.897-3343_897-3317dup	ENSP00000510609.1:n.897-3343_897-3317dup
ENST00000689740.1:c.787_813dup	ENSP00000510300.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuP...
ENST00000693680.1:c.787_813dup	ENSP00000509539.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuP...
ENST00000361373.9:c.928_954dup MANE Select	ENSP00000355296.3:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuP...
ENST00000429277.7:c.756-3343_756-3317dup	ENSP00000401437.3:n.756-3343_756-3317dup
ENST00000623056.4:c.1101-3343_1101-3317dup	ENSP00000485500.1:n.1101-3343_1101-3317dup
ENST00000263066.10:c.756-3343_756-3317dup	ENSP00000263066.6:n.756-3343_756-3317dup
ENST00000361373.8:c.928_954dup	ENSP00000355296.3:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuP...
ENST00000429277.6:c.1101-3343_1101-3317dup	ENSP00000401437.2:n.1101-3343_1101-3317dup
ENST00000623056.3:c.1101-3343_1101-3317dup	ENSP00000485500.1:n.1101-3343_1101-3317dup
NM_001080114.1:c.756-3343_756-3317dup	NP_001073583.1:n.756-3343_756-3317dup
NM_001171610.1:c.1101-3343_1101-3317dup	NP_001165081.1:n.1101-3343_1101-3317dup
NM_007078.2:c.928_954dup , LRG_385t1:c.928_954dup	NP_009009.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_005269464.3:c.928_954dup	XP_005269521.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_005269466.3:c.897-3343_897-3317dup	XP_005269523.1:n.897-3343_897-3317dup
XM_011539184.1:c.1132_1158dup	XP_011537486.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539185.1:c.1132_1158dup	XP_011537487.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539186.1:c.1132_1158dup	XP_011537488.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539187.1:c.1101-3343_1101-3317dup	XP_011537489.1:n.1101-3343_1101-3317dup
XM_011539188.1:c.928_954dup	XP_011537490.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_011539189.1:c.787_813dup	XP_011537491.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuPro
XM_011539190.1:c.787_813dup	XP_011537492.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuPro
XM_011539191.1:c.598_624dup	XP_011537493.1:p.Pro208_Ala209insSerGlnAlaThrThrProLeuLeuPro
XM_011539192.1:c.583_609dup	XP_011537494.1:p.Pro203_Ala204insSerGlnAlaThrThrProLeuLeuPro
XM_011539193.1:c.88_114dup	XP_011537495.1:p.Pro38_Ala39insSerGlnAlaThrThrProLeuLeuPro
XM_011539194.1:c.57-3343_57-3317dup	XP_011537496.1:n.57-3343_57-3317dup
XM_005269464.4:c.928_954dup	XP_005269521.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_005269466.4:c.897-3343_897-3317dup	XP_005269523.1:n.897-3343_897-3317dup
XM_011539184.2:c.1132_1158dup	XP_011537486.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539185.2:c.1132_1158dup	XP_011537487.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539186.2:c.1132_1158dup	XP_011537488.1:p.Pro386_Ala387insSerGlnAlaThrThrProLeuLeuPro
XM_011539187.2:c.1101-3343_1101-3317dup	XP_011537489.1:n.1101-3343_1101-3317dup
XM_011539188.2:c.928_954dup	XP_011537490.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_011539190.2:c.787_813dup	XP_011537492.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuPro
XM_011539191.2:c.598_624dup	XP_011537493.1:p.Pro208_Ala209insSerGlnAlaThrThrProLeuLeuPro
XM_017015606.1:c.928_954dup	XP_016871095.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro
XM_017015607.1:c.88_114dup	XP_016871096.1:p.Pro38_Ala39insSerGlnAlaThrThrProLeuLeuPro
XM_024447785.1:c.787_813dup	XP_024303553.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuPro
XM_024447786.1:c.756-3343_756-3317dup	XP_024303554.1:n.756-3343_756-3317dup
NM_001080114.2:c.756-3343_756-3317dup	NP_001073583.1:n.756-3343_756-3317dup
NM_001171610.2:c.1101-3343_1101-3317dup	NP_001165081.1:n.1101-3343_1101-3317dup
NM_001368064.1:c.897-3343_897-3317dup	NP_001354993.1:n.897-3343_897-3317dup
NM_001368065.1:c.897-3343_897-3317dup	NP_001354994.1:n.897-3343_897-3317dup
NM_001368066.1:c.787_813dup	NP_001354995.1:p.Pro271_Ala272insSerGlnAlaThrThrProLeuLeuPro
NM_007078.3:c.928_954dup MANE Select	NP_009009.1:p.Pro318_Ala319insSerGlnAlaThrThrProLeuLeuPro