Canonical Allele Identifier: CA10585329

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251689
• ClinVar RCV Id: RCV000237675
• dbSNP Id: rs879254806
• MyVariant Identifiers: chr19:g.11222280_11222288del (hg19) ; chr19:g.11111604_11111612del (hg38)
• PubMed: PMID:21310417 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111604_11111612del , CM000681.2:g.11111604_11111612del	GRCh38
NC_000019.9:g.11222280_11222288del , CM000681.1:g.11222280_11222288del	GRCh37
NC_000019.8:g.11083280_11083288del	NCBI36
NG_009060.1:g.27224_27232del , LRG_274:g.27224_27232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1409_1417del	ENSP00000252444.6:p.Gln470_Asp472del
ENST00000559340.2:c.1151_1159del	ENSP00000453696.2:p.Gln384_Asp386del
ENST00000560467.2:c.1031_1039del	ENSP00000453513.2:p.Gln344_Asp346del
ENST00000558518.6:c.1151_1159del MANE Select	ENSP00000454071.1:p.Gln384_Asp386del
ENST00000252444.9:c.1405_1413del
ENST00000455727.6:c.647_655del	ENSP00000397829.2:p.Gln216_Asp218del
ENST00000535915.5:c.1028_1036del	ENSP00000440520.1:p.Gln343_Asp345del
ENST00000545707.5:c.770_778del	ENSP00000437639.1:p.Gln257_Asp259del
ENST00000557933.5:c.1151_1159del	ENSP00000453557.1:p.Gln384_Asp386del
ENST00000558013.5:c.1151_1159del	ENSP00000453346.1:p.Gln384_Asp386del
ENST00000558518.5:c.1151_1159del	ENSP00000454071.1:p.Gln384_Asp386del
ENST00000560173.1:n.150_158del
ENST00000560467.1:c.631_639del
NM_000527.4:c.1151_1159del , LRG_274t1:c.1151_1159del	NP_000518.1:p.Gln384_Asp386del
NM_001195798.1:c.1151_1159del	NP_001182727.1:p.Gln384_Asp386del
NM_001195799.1:c.1028_1036del	NP_001182728.1:p.Gln343_Asp345del
NM_001195800.1:c.647_655del	NP_001182729.1:p.Gln216_Asp218del
NM_001195803.1:c.770_778del	NP_001182732.1:p.Gln257_Asp259del
XM_011528010.1:c.1151_1159del	XP_011526312.1:p.Gln384_Asp386del
XM_011528011.1:c.770_778del	XP_011526313.1:p.Gln257_Asp259del
XR_244074.2:n.1301_1309del
XM_011528010.2:c.1151_1159del	XP_011526312.1:p.Gln384_Asp386del
XR_001753685.2:n.1268_1276del
XR_001753686.2:n.1268_1276del
NM_000527.5:c.1151_1159del MANE Select	NP_000518.1:p.Gln384_Asp386del
NM_001195798.2:c.1151_1159del	NP_001182727.1:p.Gln384_Asp386del
NM_001195799.2:c.1028_1036del	NP_001182728.1:p.Gln343_Asp345del
NM_001195800.2:c.647_655del	NP_001182729.1:p.Gln216_Asp218del
NM_001195803.2:c.770_778del	NP_001182732.1:p.Gln257_Asp259del