Canonical Allele Identifier: CA10585597

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252013
• ClinVar RCV Id: RCV000237241
• dbSNP Id: rs879255008
• MyVariant Identifiers: chr19:g.11227578_11227582del (hg19) ; chr19:g.11116902_11116906del (hg38)
• PubMed: PMID:19446849 ; PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116902_11116906del , CM000681.2:g.11116902_11116906del	GRCh38
NC_000019.9:g.11227578_11227582del , CM000681.1:g.11227578_11227582del	GRCh37
NC_000019.8:g.11088578_11088582del	NCBI36
NG_009060.1:g.32522_32526del , LRG_274:g.32522_32526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2007_2011del	ENSP00000252444.6:p.Ser670LeufsTer17
ENST00000559340.2:c.1705+690_1705+694del	ENSP00000453696.2:n.1705+690_1705+694del
ENST00000560467.2:c.1629_1633del	ENSP00000453513.2:p.Ser544LeufsTer17
ENST00000558518.6:c.1749_1753del MANE Select	ENSP00000454071.1:p.Ser584LeufsTer17
ENST00000252444.9:c.2003_2007del
ENST00000455727.6:c.1245_1249del	ENSP00000397829.2:p.Ser416LeufsTer17
ENST00000535915.5:c.1626_1630del	ENSP00000440520.1:p.Ser543LeufsTer17
ENST00000545707.5:c.1368_1372del	ENSP00000437639.1:p.Ser457LeufsTer17
ENST00000557933.5:c.1749_1753del	ENSP00000453557.1:p.Ser584LeufsTer17
ENST00000558013.5:c.1749_1753del	ENSP00000453346.1:p.Ser584LeufsTer17
ENST00000558518.5:c.1749_1753del	ENSP00000454071.1:p.Ser584LeufsTer17
ENST00000559340.1:c.426+690_426+694del
NM_000527.4:c.1749_1753del , LRG_274t1:c.1749_1753del	NP_000518.1:p.Ser584LeufsTer17
NM_001195798.1:c.1749_1753del	NP_001182727.1:p.Ser584LeufsTer17
NM_001195799.1:c.1626_1630del	NP_001182728.1:p.Ser543LeufsTer17
NM_001195800.1:c.1245_1249del	NP_001182729.1:p.Ser416LeufsTer17
NM_001195803.1:c.1368_1372del	NP_001182732.1:p.Ser457LeufsTer17
XM_011528010.1:c.1749_1753del	XP_011526312.1:p.Ser584LeufsTer17
XM_011528011.1:c.1368_1372del	XP_011526313.1:p.Ser457LeufsTer17
XR_244074.2:n.1855+690_1855+694del
XM_011528010.2:c.1749_1753del	XP_011526312.1:p.Ser584LeufsTer17
XR_001753685.2:n.1866_1870del
XR_001753686.2:n.1822+690_1822+694del
NM_000527.5:c.1749_1753del MANE Select	NP_000518.1:p.Ser584LeufsTer17
NM_001195798.2:c.1749_1753del	NP_001182727.1:p.Ser584LeufsTer17
NM_001195799.2:c.1626_1630del	NP_001182728.1:p.Ser543LeufsTer17
NM_001195800.2:c.1245_1249del	NP_001182729.1:p.Ser416LeufsTer17
NM_001195803.2:c.1368_1372del	NP_001182732.1:p.Ser457LeufsTer17