Canonical Allele Identifier: CA176557

Gene: LDB3

Linked Data

• ClinVar Variation Id: 163850
• ClinVar RCV Id: RCV000150927 ; RCV000622367 ; RCV001245723 ; RCV003298157 ; RCV000769290
• dbSNP Id: rs727503129
• gnomAD v2: 10-88476459-TC-T
• gnomAD v3: 10-86716702-TC-T
• gnomAD v4: 10-86716702-TC-T
• MyVariant Identifiers: chr10:g.88476461del (hg19) ; chr10:g.88476460del (hg19) ; chr10:g.86716704del (hg38) ; chr10:g.86716703del (hg38)
• PubMed: PMID:11696561 ; PMID:19028670

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716704del , CM000672.2:g.86716704del	GRCh38
NC_000010.10:g.88476461del , CM000672.1:g.88476461del	GRCh37
NC_000010.9:g.88466441del	NCBI36
NG_008876.1:g.53141del , LRG_385:g.53141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2023del
ENST00000688001.1:c.1420del	ENSP00000508987.1:p.Gln474ArgfsTer28
ENST00000689296.1:c.1420del	ENSP00000510609.1:p.Gln474ArgfsTer28
ENST00000689740.1:c.1468del	ENSP00000510300.1:p.Gln490ArgfsTer28
ENST00000693680.1:c.1468del	ENSP00000509539.1:p.Gln490ArgfsTer28
ENST00000361373.9:c.1609del MANE Select	ENSP00000355296.3:p.Gln537ArgfsTer28
ENST00000429277.7:c.1279del	ENSP00000401437.3:p.Gln427ArgfsTer28
ENST00000623056.4:c.1624del	ENSP00000485500.1:p.Gln542ArgfsTer28
ENST00000263066.10:c.1279del	ENSP00000263066.6:p.Gln427ArgfsTer28
ENST00000361373.8:c.1609del	ENSP00000355296.3:p.Gln537ArgfsTer28
ENST00000429277.6:c.1624del	ENSP00000401437.2:p.Gln542ArgfsTer28
ENST00000623056.3:c.1624del	ENSP00000485500.1:p.Gln542ArgfsTer28
NM_001080114.1:c.1279del	NP_001073583.1:p.Gln427ArgfsTer28
NM_001171610.1:c.1624del	NP_001165081.1:p.Gln542ArgfsTer28
NM_007078.2:c.1609del , LRG_385t1:c.1609del	NP_009009.1:p.Gln537ArgfsTer28
XM_005269464.3:c.1609del	XP_005269521.1:p.Gln537ArgfsTer28
XM_005269466.3:c.1420del	XP_005269523.1:p.Gln474ArgfsTer28
XM_011539184.1:c.1861del	XP_011537486.1:p.Gln621ArgfsTer28
XM_011539185.1:c.1861del	XP_011537487.1:p.Gln621ArgfsTer28
XM_011539186.1:c.1813del	XP_011537488.1:p.Gln605ArgfsTer28
XM_011539187.1:c.1672del	XP_011537489.1:p.Gln558ArgfsTer28
XM_011539188.1:c.1657del	XP_011537490.1:p.Gln553ArgfsTer28
XM_011539189.1:c.1516del	XP_011537491.1:p.Gln506ArgfsTer28
XM_011539190.1:c.1468del	XP_011537492.1:p.Gln490ArgfsTer28
XM_011539191.1:c.1327del	XP_011537493.1:p.Gln443ArgfsTer28
XM_011539192.1:c.1312del	XP_011537494.1:p.Gln438ArgfsTer28
XM_011539193.1:c.817del	XP_011537495.1:p.Gln273ArgfsTer28
XM_011539194.1:c.628del	XP_011537496.1:p.Gln210ArgfsTer28
XM_005269464.4:c.1609del	XP_005269521.1:p.Gln537ArgfsTer28
XM_005269466.4:c.1420del	XP_005269523.1:p.Gln474ArgfsTer28
XM_011539184.2:c.1861del	XP_011537486.1:p.Gln621ArgfsTer28
XM_011539185.2:c.1861del	XP_011537487.1:p.Gln621ArgfsTer28
XM_011539186.2:c.1813del	XP_011537488.1:p.Gln605ArgfsTer28
XM_011539187.2:c.1672del	XP_011537489.1:p.Gln558ArgfsTer28
XM_011539188.2:c.1657del	XP_011537490.1:p.Gln553ArgfsTer28
XM_011539190.2:c.1468del	XP_011537492.1:p.Gln490ArgfsTer28
XM_011539191.2:c.1327del	XP_011537493.1:p.Gln443ArgfsTer28
XM_017015606.1:c.1657del	XP_016871095.1:p.Gln553ArgfsTer28
XM_017015607.1:c.817del	XP_016871096.1:p.Gln273ArgfsTer28
XM_024447785.1:c.1516del	XP_024303553.1:p.Gln506ArgfsTer28
XM_024447786.1:c.1279del	XP_024303554.1:p.Gln427ArgfsTer28
NM_001080114.2:c.1279del	NP_001073583.1:p.Gln427ArgfsTer28
NM_001171610.2:c.1624del	NP_001165081.1:p.Gln542ArgfsTer28
NM_001368064.1:c.1420del	NP_001354993.1:p.Gln474ArgfsTer28
NM_001368065.1:c.1420del	NP_001354994.1:p.Gln474ArgfsTer28
NM_001368066.1:c.1468del	NP_001354995.1:p.Gln490ArgfsTer28
NM_007078.3:c.1609del MANE Select	NP_009009.1:p.Gln537ArgfsTer28