Canonical Allele Identifier: CA10585560

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251968
• ClinVar RCV Id: RCV000237194
• dbSNP Id: rs879254984
• MyVariant Identifiers: chr19:g.11226869_11226876delinsT (hg19) ; chr19:g.11116193_11116200delinsT (hg38)
• PubMed: PMID:24373485

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116193_11116200delinsT , CM000681.2:g.11116193_11116200delinsT	GRCh38
NC_000019.9:g.11226869_11226876delinsT , CM000681.1:g.11226869_11226876delinsT	GRCh37
NC_000019.8:g.11087869_11087876delinsT	NCBI36
NG_009060.1:g.31813_31820delinsT , LRG_274:g.31813_31820delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1944_1951delinsT	ENSP00000252444.6:p.Trp648CysfsTer5
ENST00000559340.2:c.1686_1693delinsT	ENSP00000453696.2:p.Trp562CysfsTer5
ENST00000560467.2:c.1566_1573delinsT	ENSP00000453513.2:p.Trp522CysfsTer5
ENST00000558518.6:c.1686_1693delinsT MANE Select	ENSP00000454071.1:p.Trp562CysfsTer5
ENST00000252444.9:c.1940_1947delinsT
ENST00000455727.6:c.1182_1189delinsT	ENSP00000397829.2:p.Trp394CysfsTer5
ENST00000535915.5:c.1563_1570delinsT	ENSP00000440520.1:p.Trp521CysfsTer5
ENST00000545707.5:c.1305_1312delinsT	ENSP00000437639.1:p.Trp435CysfsTer5
ENST00000557933.5:c.1686_1693delinsT	ENSP00000453557.1:p.Trp562CysfsTer5
ENST00000558013.5:c.1686_1693delinsT	ENSP00000453346.1:p.Trp562CysfsTer5
ENST00000558518.5:c.1686_1693delinsT	ENSP00000454071.1:p.Trp562CysfsTer5
ENST00000559340.1:c.407_414delinsT
NM_000527.4:c.1686_1693delinsT , LRG_274t1:c.1686_1693delinsT	NP_000518.1:p.Trp562CysfsTer5
NM_001195798.1:c.1686_1693delinsT	NP_001182727.1:p.Trp562CysfsTer5
NM_001195799.1:c.1563_1570delinsT	NP_001182728.1:p.Trp521CysfsTer5
NM_001195800.1:c.1182_1189delinsT	NP_001182729.1:p.Trp394CysfsTer5
NM_001195803.1:c.1305_1312delinsT	NP_001182732.1:p.Trp435CysfsTer5
XM_011528010.1:c.1686_1693delinsT	XP_011526312.1:p.Trp562CysfsTer5
XM_011528011.1:c.1305_1312delinsT	XP_011526313.1:p.Trp435CysfsTer5
XR_244074.2:n.1836_1843delinsT
XM_011528010.2:c.1686_1693delinsT	XP_011526312.1:p.Trp562CysfsTer5
XR_001753685.2:n.1803_1810delinsT
XR_001753686.2:n.1803_1810delinsT
NM_000527.5:c.1686_1693delinsT MANE Select	NP_000518.1:p.Trp562CysfsTer5
NM_001195798.2:c.1686_1693delinsT	NP_001182727.1:p.Trp562CysfsTer5
NM_001195799.2:c.1563_1570delinsT	NP_001182728.1:p.Trp521CysfsTer5
NM_001195800.2:c.1182_1189delinsT	NP_001182729.1:p.Trp394CysfsTer5
NM_001195803.2:c.1305_1312delinsT	NP_001182732.1:p.Trp435CysfsTer5