Canonical Allele Identifier: CA10588893
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 265899
ClinVar RCV Id: RCV000256237
dbSNP Id: rs886039830

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105524_11105544del , CM000681.2:g.11105524_11105544del GRCh38
NC_000019.9:g.11216200_11216220del , CM000681.1:g.11216200_11216220del GRCh37
NC_000019.8:g.11077200_11077220del NCBI36
NG_009060.1:g.21144_21164del , LRG_274:g.21144_21164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.876_896del ENSP00000252444.6:p.Gly293_Ser299del
ENST00000559340.2:c.618_638del ENSP00000453696.2:p.Gly207_Ser213del
ENST00000560467.2:c.618_638del ENSP00000453513.2:p.Gly207_Ser213del
ENST00000558518.6:c.618_638del MANE Select ENSP00000454071.1:p.Gly207_Ser213del
ENST00000252444.9:c.872_892del
ENST00000455727.6:c.314-1868_314-1848del ENSP00000397829.2:n.314-1868_314-1848del
ENST00000535915.5:c.495_515del ENSP00000440520.1:p.Gly166_Ser172del
ENST00000545707.5:c.314-1041_314-1021del ENSP00000437639.1:n.314-1041_314-1021del
ENST00000557933.5:c.618_638del ENSP00000453557.1:p.Gly207_Ser213del
ENST00000558013.5:c.618_638del ENSP00000453346.1:p.Gly207_Ser213del
ENST00000558518.5:c.618_638del ENSP00000454071.1:p.Gly207_Ser213del
ENST00000560467.1:c.218_238del
NM_000527.4:c.618_638del , LRG_274t1:c.618_638del NP_000518.1:p.Gly207_Ser213del
NM_001195798.1:c.618_638del NP_001182727.1:p.Gly207_Ser213del
NM_001195799.1:c.495_515del NP_001182728.1:p.Gly166_Ser172del
NM_001195800.1:c.314-1868_314-1848del NP_001182729.1:n.314-1868_314-1848del
NM_001195803.1:c.314-1041_314-1021del NP_001182732.1:n.314-1041_314-1021del
XM_011528010.1:c.618_638del XP_011526312.1:p.Gly207_Ser213del
XM_011528011.1:c.314-1041_314-1021del XP_011526313.1:n.314-1041_314-1021del
XR_244074.2:n.768_788del
XM_011528010.2:c.618_638del XP_011526312.1:p.Gly207_Ser213del
XR_001753685.2:n.735_755del
XR_001753686.2:n.735_755del
NM_000527.5:c.618_638del MANE Select NP_000518.1:p.Gly207_Ser213del
NM_001195798.2:c.618_638del NP_001182727.1:p.Gly207_Ser213del
NM_001195799.2:c.495_515del NP_001182728.1:p.Gly166_Ser172del
NM_001195800.2:c.314-1868_314-1848del NP_001182729.1:n.314-1868_314-1848del
NM_001195803.2:c.314-1041_314-1021del NP_001182732.1:n.314-1041_314-1021del