Canonical Allele Identifier: CA658799127
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 504222
dbSNP Id: rs1555808094

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123266_11123324del , CM000681.2:g.11123266_11123324del GRCh38
NC_000019.9:g.11233942_11234000del , CM000681.1:g.11233942_11234000del GRCh37
NC_000019.8:g.11094942_11095000del NCBI36
NG_009060.1:g.38886_38944del , LRG_274:g.38886_38944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2491_2549del ENSP00000252444.6:p.Pro831SerfsTer17
ENST00000559340.2:c.*302_*360del ENSP00000453696.2:n.*302_*360del
ENST00000560467.2:c.2113_2171del ENSP00000453513.2:p.Pro705SerfsTer17
ENST00000558518.6:c.2233_2291del MANE Select ENSP00000454071.1:p.Pro745SerfsTer17
ENST00000252444.9:c.2487_2545del
ENST00000455727.6:c.1729_1787del ENSP00000397829.2:p.Pro577SerfsTer17
ENST00000535915.5:c.2110_2168del ENSP00000440520.1:p.Pro704SerfsTer17
ENST00000545707.5:c.1699_1757del ENSP00000437639.1:p.Pro567SerfsTer17
ENST00000557933.5:c.2233_2291del ENSP00000453557.1:p.Pro745SerfsTer17
ENST00000558013.5:c.2233_2291del ENSP00000453346.1:p.Pro745SerfsTer17
ENST00000558518.5:c.2233_2291del ENSP00000454071.1:p.Pro745SerfsTer17
NM_000527.4:c.2233_2291del , LRG_274t1:c.2233_2291del NP_000518.1:p.Pro745SerfsTer17
NM_001195798.1:c.2233_2291del NP_001182727.1:p.Pro745SerfsTer17
NM_001195799.1:c.2110_2168del NP_001182728.1:p.Pro704SerfsTer17
NM_001195800.1:c.1729_1787del NP_001182729.1:p.Pro577SerfsTer17
NM_001195803.1:c.1699_1757del NP_001182732.1:p.Pro567SerfsTer17
XM_011528010.1:c.2233_2291del XP_011526312.1:p.Pro745SerfsTer26
XM_011528011.1:c.1852_1910del XP_011526313.1:p.Pro618SerfsTer17
XR_244074.2:n.2243_2301del
XM_011528010.2:c.2233_2291del XP_011526312.1:p.Pro745SerfsTer26
XR_001753685.2:n.2567_2625del
XR_001753686.2:n.2210_2268del
NM_000527.5:c.2233_2291del MANE Select NP_000518.1:p.Pro745SerfsTer17
NM_001195798.2:c.2233_2291del NP_001182727.1:p.Pro745SerfsTer17
NM_001195799.2:c.2110_2168del NP_001182728.1:p.Pro704SerfsTer17
NM_001195800.2:c.1729_1787del NP_001182729.1:p.Pro577SerfsTer17
NM_001195803.2:c.1699_1757del NP_001182732.1:p.Pro567SerfsTer17