Canonical Allele Identifier: CA1139666267
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 982979
ClinVar RCV Id: RCV001262749
dbSNP Id: rs2077364374

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110765_11110767del , CM000681.2:g.11110765_11110767del GRCh38
NC_000019.9:g.11221441_11221443del , CM000681.1:g.11221441_11221443del GRCh37
NC_000019.8:g.11082441_11082443del NCBI36
NG_009060.1:g.26385_26387del , LRG_274:g.26385_26387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1312_1314del ENSP00000252444.6:p.Cys438del
ENST00000559340.2:c.1054_1056del ENSP00000453696.2:p.Cys352del
ENST00000560467.2:c.941-749_941-747del ENSP00000453513.2:n.941-749_941-747del
ENST00000558518.6:c.1054_1056del MANE Select ENSP00000454071.1:p.Cys352del
ENST00000252444.9:c.1308_1310del
ENST00000455727.6:c.550_552del ENSP00000397829.2:p.Cys184del
ENST00000535915.5:c.931_933del ENSP00000440520.1:p.Cys311del
ENST00000545707.5:c.673_675del ENSP00000437639.1:p.Cys225del
ENST00000557933.5:c.1054_1056del ENSP00000453557.1:p.Cys352del
ENST00000558013.5:c.1054_1056del ENSP00000453346.1:p.Cys352del
ENST00000558518.5:c.1054_1056del ENSP00000454071.1:p.Cys352del
ENST00000560173.1:n.53_55del
ENST00000560467.1:c.541-749_541-747del
NM_000527.4:c.1054_1056del , LRG_274t1:c.1054_1056del NP_000518.1:p.Cys352del
NM_001195798.1:c.1054_1056del NP_001182727.1:p.Cys352del
NM_001195799.1:c.931_933del NP_001182728.1:p.Cys311del
NM_001195800.1:c.550_552del NP_001182729.1:p.Cys184del
NM_001195803.1:c.673_675del NP_001182732.1:p.Cys225del
XM_011528010.1:c.1054_1056del XP_011526312.1:p.Cys352del
XM_011528011.1:c.673_675del XP_011526313.1:p.Cys225del
XR_244074.2:n.1204_1206del
XM_011528010.2:c.1054_1056del XP_011526312.1:p.Cys352del
XR_001753685.2:n.1171_1173del
XR_001753686.2:n.1171_1173del
NM_000527.5:c.1054_1056del MANE Select NP_000518.1:p.Cys352del
NM_001195798.2:c.1054_1056del NP_001182727.1:p.Cys352del
NM_001195799.2:c.931_933del NP_001182728.1:p.Cys311del
NM_001195800.2:c.550_552del NP_001182729.1:p.Cys184del
NM_001195803.2:c.673_675del NP_001182732.1:p.Cys225del