Canonical Allele Identifier: CA2573155716
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1386964
ClinVar RCV Id: RCV001905910
dbSNP Id: rs2147225692

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105582_11105583delinsAA , CM000681.2:g.11105582_11105583delinsAA GRCh38
NC_000019.9:g.11216258_11216259delinsAA , CM000681.1:g.11216258_11216259delinsAA GRCh37
NC_000019.8:g.11077258_11077259delinsAA NCBI36
NG_009060.1:g.21202_21203delinsAA , LRG_274:g.21202_21203delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.934_935delinsAA ENSP00000252444.6:p.Ser312Asn
ENST00000559340.2:c.676_677delinsAA ENSP00000453696.2:p.Ser226Asn
ENST00000560467.2:c.676_677delinsAA ENSP00000453513.2:p.Ser226Asn
ENST00000558518.6:c.676_677delinsAA MANE Select ENSP00000454071.1:p.Ser226Asn
ENST00000252444.9:c.930_931delinsAA
ENST00000455727.6:c.314-1810_314-1809delinsAA ENSP00000397829.2:n.314-1810_314-1809delinsAA
ENST00000535915.5:c.553_554delinsAA ENSP00000440520.1:p.Ser185Asn
ENST00000545707.5:c.314-983_314-982delinsAA ENSP00000437639.1:n.314-983_314-982delinsAA
ENST00000557933.5:c.676_677delinsAA ENSP00000453557.1:p.Ser226Asn
ENST00000558013.5:c.676_677delinsAA ENSP00000453346.1:p.Ser226Asn
ENST00000558518.5:c.676_677delinsAA ENSP00000454071.1:p.Ser226Asn
ENST00000560467.1:c.276_277delinsAA
NM_000527.4:c.676_677delinsAA , LRG_274t1:c.676_677delinsAA NP_000518.1:p.Ser226Asn
NM_001195798.1:c.676_677delinsAA NP_001182727.1:p.Ser226Asn
NM_001195799.1:c.553_554delinsAA NP_001182728.1:p.Ser185Asn
NM_001195800.1:c.314-1810_314-1809delinsAA NP_001182729.1:n.314-1810_314-1809delinsAA
NM_001195803.1:c.314-983_314-982delinsAA NP_001182732.1:n.314-983_314-982delinsAA
XM_011528010.1:c.676_677delinsAA XP_011526312.1:p.Ser226Asn
XM_011528011.1:c.314-983_314-982delinsAA XP_011526313.1:n.314-983_314-982delinsAA
XR_244074.2:n.826_827delinsAA
XM_011528010.2:c.676_677delinsAA XP_011526312.1:p.Ser226Asn
XR_001753685.2:n.793_794delinsAA
XR_001753686.2:n.793_794delinsAA
NM_000527.5:c.676_677delinsAA MANE Select NP_000518.1:p.Ser226Asn
NM_001195798.2:c.676_677delinsAA NP_001182727.1:p.Ser226Asn
NM_001195799.2:c.553_554delinsAA NP_001182728.1:p.Ser185Asn
NM_001195800.2:c.314-1810_314-1809delinsAA NP_001182729.1:n.314-1810_314-1809delinsAA
NM_001195803.2:c.314-983_314-982delinsAA NP_001182732.1:n.314-983_314-982delinsAA