Canonical Allele Identifier: CA10585812

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252263
• ClinVar RCV Id: RCV000237215 ; RCV002518496
• dbSNP Id: rs879255168
• MyVariant Identifiers: chr19:g.11233973_11233982del (hg19) ; chr19:g.11123297_11123306del (hg38)
• PubMed: PMID:21722902

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123297_11123306del , CM000681.2:g.11123297_11123306del	GRCh38
NC_000019.9:g.11233973_11233982del , CM000681.1:g.11233973_11233982del	GRCh37
NC_000019.8:g.11094973_11094982del	NCBI36
NG_009060.1:g.38917_38926del , LRG_274:g.38917_38926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2522_2531del	ENSP00000252444.6:p.Ala841GlyfsTer7
ENST00000559340.2:c.*333_*342del	ENSP00000453696.2:n.*333_*342del
ENST00000560467.2:c.2144_2153del	ENSP00000453513.2:p.Ala715GlyfsTer7
ENST00000558518.6:c.2264_2273del MANE Select	ENSP00000454071.1:p.Ala755GlyfsTer7
ENST00000252444.9:c.2518_2527del
ENST00000455727.6:c.1760_1769del	ENSP00000397829.2:p.Ala587GlyfsTer7
ENST00000535915.5:c.2141_2150del	ENSP00000440520.1:p.Ala714GlyfsTer7
ENST00000545707.5:c.1730_1739del	ENSP00000437639.1:p.Ala577GlyfsTer7
ENST00000557933.5:c.2264_2273del	ENSP00000453557.1:p.Ala755GlyfsTer7
ENST00000558013.5:c.2264_2273del	ENSP00000453346.1:p.Ala755GlyfsTer7
ENST00000558518.5:c.2264_2273del	ENSP00000454071.1:p.Ala755GlyfsTer7
NM_000527.4:c.2264_2273del , LRG_274t1:c.2264_2273del	NP_000518.1:p.Ala755GlyfsTer7
NM_001195798.1:c.2264_2273del	NP_001182727.1:p.Ala755GlyfsTer7
NM_001195799.1:c.2141_2150del	NP_001182728.1:p.Ala714GlyfsTer7
NM_001195800.1:c.1760_1769del	NP_001182729.1:p.Ala587GlyfsTer7
NM_001195803.1:c.1730_1739del	NP_001182732.1:p.Ala577GlyfsTer7
XM_011528010.1:c.2264_2273del	XP_011526312.1:p.Ala755GlyfsTer7
XM_011528011.1:c.1883_1892del	XP_011526313.1:p.Ala628GlyfsTer7
XR_244074.2:n.2274_2283del
XM_011528010.2:c.2264_2273del	XP_011526312.1:p.Ala755GlyfsTer7
XR_001753685.2:n.2598_2607del
XR_001753686.2:n.2241_2250del
NM_000527.5:c.2264_2273del MANE Select	NP_000518.1:p.Ala755GlyfsTer7
NM_001195798.2:c.2264_2273del	NP_001182727.1:p.Ala755GlyfsTer7
NM_001195799.2:c.2141_2150del	NP_001182728.1:p.Ala714GlyfsTer7
NM_001195800.2:c.1760_1769del	NP_001182729.1:p.Ala587GlyfsTer7
NM_001195803.2:c.1730_1739del	NP_001182732.1:p.Ala577GlyfsTer7