Canonical Allele Identifier: CA658653854
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441179
ClinVar RCV Id: RCV000509087
dbSNP Id: rs1555802291

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100295_11100308del , CM000681.2:g.11100295_11100308del GRCh38
NC_000019.9:g.11210971_11210984del , CM000681.1:g.11210971_11210984del GRCh37
NC_000019.8:g.11071971_11071984del NCBI36
NG_009060.1:g.15915_15928del , LRG_274:g.15915_15928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.398_411del ENSP00000252444.6:p.Asp133ValfsTer6
ENST00000559340.2:c.140_153del ENSP00000453696.2:p.Asp47ValfsTer6
ENST00000560467.2:c.140_153del ENSP00000453513.2:p.Asp47ValfsTer6
ENST00000558518.6:c.140_153del MANE Select ENSP00000454071.1:p.Asp47ValfsTer6
ENST00000252444.9:c.394_407del
ENST00000455727.6:c.140_153del ENSP00000397829.2:p.Asp47ValfsTer6
ENST00000535915.5:c.140_153del ENSP00000440520.1:p.Asp47ValfsTer6
ENST00000545707.5:c.140_153del ENSP00000437639.1:p.Asp47ValfsTer6
ENST00000557933.5:c.140_153del ENSP00000453557.1:p.Asp47ValfsTer6
ENST00000557958.1:n.226_239del
ENST00000558013.5:c.140_153del ENSP00000453346.1:p.Asp47ValfsTer6
ENST00000558518.5:c.140_153del ENSP00000454071.1:p.Asp47ValfsTer6
ENST00000560502.5:n.226_239del
NM_000527.4:c.140_153del , LRG_274t1:c.140_153del NP_000518.1:p.Asp47ValfsTer6
NM_001195798.1:c.140_153del NP_001182727.1:p.Asp47ValfsTer6
NM_001195799.1:c.140_153del NP_001182728.1:p.Asp47ValfsTer6
NM_001195800.1:c.140_153del NP_001182729.1:p.Asp47ValfsTer6
NM_001195803.1:c.140_153del NP_001182732.1:p.Asp47ValfsTer6
XM_011528010.1:c.140_153del XP_011526312.1:p.Asp47ValfsTer6
XM_011528011.1:c.140_153del XP_011526313.1:p.Asp47ValfsTer6
XR_244074.2:n.290_303del
XM_011528010.2:c.140_153del XP_011526312.1:p.Asp47ValfsTer6
XR_001753685.2:n.257_270del
XR_001753686.2:n.257_270del
NM_000527.5:c.140_153del MANE Select NP_000518.1:p.Asp47ValfsTer6
NM_001195798.2:c.140_153del NP_001182727.1:p.Asp47ValfsTer6
NM_001195799.2:c.140_153del NP_001182728.1:p.Asp47ValfsTer6
NM_001195800.2:c.140_153del NP_001182729.1:p.Asp47ValfsTer6
NM_001195803.2:c.140_153del NP_001182732.1:p.Asp47ValfsTer6