Canonical Allele Identifier: CA10585172
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251499
dbSNP Id: rs879254704

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107455_11107456del , CM000681.2:g.11107455_11107456del GRCh38
NC_000019.9:g.11218131_11218132del , CM000681.1:g.11218131_11218132del GRCh37
NC_000019.8:g.11079131_11079132del NCBI36
NG_009060.1:g.23075_23076del , LRG_274:g.23075_23076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1139_1140del ENSP00000252444.6:p.Lys380SerfsTer6
ENST00000559340.2:c.881_882del ENSP00000453696.2:p.Lys294SerfsTer6
ENST00000560467.2:c.881_882del ENSP00000453513.2:p.Lys294SerfsTer6
ENST00000558518.6:c.881_882del MANE Select ENSP00000454071.1:p.Lys294SerfsTer6
ENST00000252444.9:c.1135_1136del
ENST00000455727.6:c.377_378del ENSP00000397829.2:p.Lys126SerfsTer6
ENST00000535915.5:c.758_759del ENSP00000440520.1:p.Lys253SerfsTer6
ENST00000545707.5:c.500_501del ENSP00000437639.1:p.Lys167SerfsTer6
ENST00000557933.5:c.881_882del ENSP00000453557.1:p.Lys294SerfsTer6
ENST00000558013.5:c.881_882del ENSP00000453346.1:p.Lys294SerfsTer6
ENST00000558518.5:c.881_882del ENSP00000454071.1:p.Lys294SerfsTer6
ENST00000558528.1:n.396_397del
ENST00000560467.1:c.481_482del
NM_000527.4:c.881_882del , LRG_274t1:c.881_882del NP_000518.1:p.Lys294SerfsTer6
NM_001195798.1:c.881_882del NP_001182727.1:p.Lys294SerfsTer6
NM_001195799.1:c.758_759del NP_001182728.1:p.Lys253SerfsTer6
NM_001195800.1:c.377_378del NP_001182729.1:p.Lys126SerfsTer6
NM_001195803.1:c.500_501del NP_001182732.1:p.Lys167SerfsTer6
XM_011528010.1:c.881_882del XP_011526312.1:p.Lys294SerfsTer6
XM_011528011.1:c.500_501del XP_011526313.1:p.Lys167SerfsTer6
XR_244074.2:n.1031_1032del
XM_011528010.2:c.881_882del XP_011526312.1:p.Lys294SerfsTer6
XR_001753685.2:n.998_999del
XR_001753686.2:n.998_999del
NM_000527.5:c.881_882del MANE Select NP_000518.1:p.Lys294SerfsTer6
NM_001195798.2:c.881_882del NP_001182727.1:p.Lys294SerfsTer6
NM_001195799.2:c.758_759del NP_001182728.1:p.Lys253SerfsTer6
NM_001195800.2:c.377_378del NP_001182729.1:p.Lys126SerfsTer6
NM_001195803.2:c.500_501del NP_001182732.1:p.Lys167SerfsTer6