Canonical Allele Identifier: CA645373229
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430761
ClinVar RCV Id: RCV000495903
dbSNP Id: rs1131692198

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105575_11105589delinsAACTGCGGTAAACTGCGGTAAACT , CM000681.2:g.11105575_11105589delinsAACTGCGGTAAACTGCGGTAAACT GRCh38
NC_000019.9:g.11216251_11216265delinsAACTGCGGTAAACTGCGGTAAACT , CM000681.1:g.11216251_11216265delinsAACTGCGGTAAACTGCGGTAAACT GRCh37
NC_000019.8:g.11077251_11077265delinsAACTGCGGTAAACTGCGGTAAACT NCBI36
NG_009060.1:g.21195_21209delinsAACTGCGGTAAACTGCGGTAAACT , LRG_274:g.21195_21209delinsAACTGCGGTAAACTGCGGTAAACT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.927_941delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000252444.6:p.Asp310_Glu314delinsTh...
ENST00000559340.2:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000453696.2:p.Asp224_Glu228delinsTh...
ENST00000560467.2:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000453513.2:p.Asp224_Glu228delinsTh...
ENST00000558518.6:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT MANE Select ENSP00000454071.1:p.Asp224_Glu228delinsTh...
ENST00000252444.9:c.923_937delinsAACTGCGGTAAACTGCGGTAAACT
ENST00000455727.6:c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000397829.2:n.314-1817_314-1803deli...
ENST00000535915.5:c.546_560delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000440520.1:p.Asp183_Glu187delinsTh...
ENST00000545707.5:c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000437639.1:n.314-990_314-976delins...
ENST00000557933.5:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000453557.1:p.Asp224_Glu228delinsTh...
ENST00000558013.5:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000453346.1:p.Asp224_Glu228delinsTh...
ENST00000558518.5:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT ENSP00000454071.1:p.Asp224_Glu228delinsTh...
ENST00000560467.1:c.269_283delinsAACTGCGGTAAACTGCGGTAAACT
NM_000527.4:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT , LRG_274t1:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT NP_000518.1:p.Asp224_Glu228delinsThrAlaVa...
NM_001195798.1:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT NP_001182727.1:p.Asp224_Glu228delinsThrAl...
NM_001195799.1:c.546_560delinsAACTGCGGTAAACTGCGGTAAACT NP_001182728.1:p.Asp183_Glu187delinsThrAl...
NM_001195800.1:c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT NP_001182729.1:n.314-1817_314-1803delinsA...
NM_001195803.1:c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT NP_001182732.1:n.314-990_314-976delinsAAC...
XM_011528010.1:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT XP_011526312.1:p.Asp224_Glu228delinsThrAl...
XM_011528011.1:c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT XP_011526313.1:n.314-990_314-976delinsAAC...
XR_244074.2:n.819_833delinsAACTGCGGTAAACTGCGGTAAACT
XM_011528010.2:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT XP_011526312.1:p.Asp224_Glu228delinsThrAl...
XR_001753685.2:n.786_800delinsAACTGCGGTAAACTGCGGTAAACT
XR_001753686.2:n.786_800delinsAACTGCGGTAAACTGCGGTAAACT
NM_000527.5:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT MANE Select NP_000518.1:p.Asp224_Glu228delinsThrAlaVa...
NM_001195798.2:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT NP_001182727.1:p.Asp224_Glu228delinsThrAl...
NM_001195799.2:c.546_560delinsAACTGCGGTAAACTGCGGTAAACT NP_001182728.1:p.Asp183_Glu187delinsThrAl...
NM_001195800.2:c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT NP_001182729.1:n.314-1817_314-1803delinsA...
NM_001195803.2:c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT NP_001182732.1:n.314-990_314-976delinsAAC...