Canonical Allele Identifier: CA2322767575
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA , CM000681.2:g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA GRCh38
NC_000019.9:g.11216231_11216268delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA , CM000681.1:g.11216231_11216268delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA GRCh37
NC_000019.8:g.11077231_11077268delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NCBI36
NG_009060.1:g.21175_21212delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA , LRG_274:g.21175_21212delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.907_944delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000252444.6:p.Asp303=
ENST00000559340.2:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000453696.2:p.Asp217=
ENST00000560467.2:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000453513.2:p.Asp217=
ENST00000558518.6:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA MANE Select ENSP00000454071.1:p.Asp217=
ENST00000252444.9:c.903_940delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
ENST00000455727.6:c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000397829.2:n.314-1837_314-1800deli...
ENST00000535915.5:c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000440520.1:p.Asp176=
ENST00000545707.5:c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000437639.1:n.314-1010_314-973delin...
ENST00000557933.5:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000453557.1:p.Asp217=
ENST00000558013.5:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000453346.1:p.Asp217=
ENST00000558518.5:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA ENSP00000454071.1:p.Asp217=
ENST00000560467.1:c.249_286delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
NM_000527.4:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA , LRG_274t1:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_000518.1:p.Asp217=
NM_001195798.1:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182727.1:p.Asp217=
NM_001195799.1:c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182728.1:p.Asp176=
NM_001195800.1:c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182729.1:n.314-1837_314-1800delinsG...
NM_001195803.1:c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182732.1:n.314-1010_314-973delinsGA...
XM_011528010.1:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA XP_011526312.1:p.Asp217=
XM_011528011.1:c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA XP_011526313.1:n.314-1010_314-973delinsGA...
XR_244074.2:n.799_836delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
XM_011528010.2:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA XP_011526312.1:p.Asp217=
XR_001753685.2:n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
XR_001753686.2:n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
NM_000527.5:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA MANE Select NP_000518.1:p.Asp217=
NM_001195798.2:c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182727.1:p.Asp217=
NM_001195799.2:c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182728.1:p.Asp176=
NM_001195800.2:c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182729.1:n.314-1837_314-1800delinsG...
NM_001195803.2:c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA NP_001182732.1:n.314-1010_314-973delinsGA...