Canonical Allele Identifier: CA1139666253
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 971107
dbSNP Id: rs2077280444

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105567delinsATCAC , CM000681.2:g.11105567delinsATCAC GRCh38
NC_000019.9:g.11216243delinsATCAC , CM000681.1:g.11216243delinsATCAC GRCh37
NC_000019.8:g.11077243delinsATCAC NCBI36
NG_009060.1:g.21187delinsATCAC , LRG_274:g.21187delinsATCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.919delinsATCAC ENSP00000252444.6:p.Asp307IlefsTer8
ENST00000559340.2:c.661delinsATCAC ENSP00000453696.2:p.Asp221IlefsTer8
ENST00000560467.2:c.661delinsATCAC ENSP00000453513.2:p.Asp221IlefsTer8
ENST00000558518.6:c.661delinsATCAC MANE Select ENSP00000454071.1:p.Asp221IlefsTer8
ENST00000252444.9:c.915delinsATCAC
ENST00000455727.6:c.314-1825delinsATCAC ENSP00000397829.2:n.314-1825delinsATCAC
ENST00000535915.5:c.538delinsATCAC ENSP00000440520.1:p.Asp180IlefsTer8
ENST00000545707.5:c.314-998delinsATCAC ENSP00000437639.1:n.314-998delinsATCAC
ENST00000557933.5:c.661delinsATCAC ENSP00000453557.1:p.Asp221IlefsTer8
ENST00000558013.5:c.661delinsATCAC ENSP00000453346.1:p.Asp221IlefsTer8
ENST00000558518.5:c.661delinsATCAC ENSP00000454071.1:p.Asp221IlefsTer8
ENST00000560467.1:c.261delinsATCAC
NM_000527.4:c.661delinsATCAC , LRG_274t1:c.661delinsATCAC NP_000518.1:p.Asp221IlefsTer8
NM_001195798.1:c.661delinsATCAC NP_001182727.1:p.Asp221IlefsTer8
NM_001195799.1:c.538delinsATCAC NP_001182728.1:p.Asp180IlefsTer8
NM_001195800.1:c.314-1825delinsATCAC NP_001182729.1:n.314-1825delinsATCAC
NM_001195803.1:c.314-998delinsATCAC NP_001182732.1:n.314-998delinsATCAC
XM_011528010.1:c.661delinsATCAC XP_011526312.1:p.Asp221IlefsTer8
XM_011528011.1:c.314-998delinsATCAC XP_011526313.1:n.314-998delinsATCAC
XR_244074.2:n.811delinsATCAC
XM_011528010.2:c.661delinsATCAC XP_011526312.1:p.Asp221IlefsTer8
XR_001753685.2:n.778delinsATCAC
XR_001753686.2:n.778delinsATCAC
NM_000527.5:c.661delinsATCAC MANE Select NP_000518.1:p.Asp221IlefsTer8
NM_001195798.2:c.661delinsATCAC NP_001182727.1:p.Asp221IlefsTer8
NM_001195799.2:c.538delinsATCAC NP_001182728.1:p.Asp180IlefsTer8
NM_001195800.2:c.314-1825delinsATCAC NP_001182729.1:n.314-1825delinsATCAC
NM_001195803.2:c.314-998delinsATCAC NP_001182732.1:n.314-998delinsATCAC