Canonical Allele Identifier: CA2573050582
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105585_11105587delinsACGGTATGGACTGCA , CM000681.2:g.11105585_11105587delinsACGGTATGGACTGCA GRCh38
NC_000019.9:g.11216261_11216263delinsACGGTATGGACTGCA , CM000681.1:g.11216261_11216263delinsACGGTATGGACTGCA GRCh37
NC_000019.8:g.11077261_11077263delinsACGGTATGGACTGCA NCBI36
NG_009060.1:g.21205_21207delinsACGGTATGGACTGCA , LRG_274:g.21205_21207delinsACGGTATGGACTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.937_939delinsACGGTATGGACTGCA ENSP00000252444.6:p.Asp313delinsThrValTrpThrAla
ENST00000559340.2:c.679_681delinsACGGTATGGACTGCA ENSP00000453696.2:p.Asp227delinsThrValTrpThrAla
ENST00000560467.2:c.679_681delinsACGGTATGGACTGCA ENSP00000453513.2:p.Asp227delinsThrValTrpThrAla
ENST00000558518.6:c.679_681delinsACGGTATGGACTGCA MANE Select ENSP00000454071.1:p.Asp227delinsThrValTrpThrAla
ENST00000252444.9:c.933_935delinsACGGTATGGACTGCA
ENST00000455727.6:c.314-1807_314-1805delinsACGGTATGGACTGCA ENSP00000397829.2:n.314-1807_314-1805delinsACGGTATGGACTGCA
ENST00000535915.5:c.556_558delinsACGGTATGGACTGCA ENSP00000440520.1:p.Asp186delinsThrValTrpThrAla
ENST00000545707.5:c.314-980_314-978delinsACGGTATGGACTGCA ENSP00000437639.1:n.314-980_314-978delinsACGGTATGGACTGCA
ENST00000557933.5:c.679_681delinsACGGTATGGACTGCA ENSP00000453557.1:p.Asp227delinsThrValTrpThrAla
ENST00000558013.5:c.679_681delinsACGGTATGGACTGCA ENSP00000453346.1:p.Asp227delinsThrValTrpThrAla
ENST00000558518.5:c.679_681delinsACGGTATGGACTGCA ENSP00000454071.1:p.Asp227delinsThrValTrpThrAla
ENST00000560467.1:c.279_281delinsACGGTATGGACTGCA
NM_000527.4:c.679_681delinsACGGTATGGACTGCA , LRG_274t1:c.679_681delinsACGGTATGGACTGCA NP_000518.1:p.Asp227delinsThrValTrpThrAla
NM_001195798.1:c.679_681delinsACGGTATGGACTGCA NP_001182727.1:p.Asp227delinsThrValTrpThrAla
NM_001195799.1:c.556_558delinsACGGTATGGACTGCA NP_001182728.1:p.Asp186delinsThrValTrpThrAla
NM_001195800.1:c.314-1807_314-1805delinsACGGTATGGACTGCA NP_001182729.1:n.314-1807_314-1805delinsACGGTATGGACTGCA
NM_001195803.1:c.314-980_314-978delinsACGGTATGGACTGCA NP_001182732.1:n.314-980_314-978delinsACGGTATGGACTGCA
XM_011528010.1:c.679_681delinsACGGTATGGACTGCA XP_011526312.1:p.Asp227delinsThrValTrpThrAla
XM_011528011.1:c.314-980_314-978delinsACGGTATGGACTGCA XP_011526313.1:n.314-980_314-978delinsACGGTATGGACTGCA
XR_244074.2:n.829_831delinsACGGTATGGACTGCA
XM_011528010.2:c.679_681delinsACGGTATGGACTGCA XP_011526312.1:p.Asp227delinsThrValTrpThrAla
XR_001753685.2:n.796_798delinsACGGTATGGACTGCA
XR_001753686.2:n.796_798delinsACGGTATGGACTGCA
NM_000527.5:c.679_681delinsACGGTATGGACTGCA MANE Select NP_000518.1:p.Asp227delinsThrValTrpThrAla
NM_001195798.2:c.679_681delinsACGGTATGGACTGCA NP_001182727.1:p.Asp227delinsThrValTrpThrAla
NM_001195799.2:c.556_558delinsACGGTATGGACTGCA NP_001182728.1:p.Asp186delinsThrValTrpThrAla
NM_001195800.2:c.314-1807_314-1805delinsACGGTATGGACTGCA NP_001182729.1:n.314-1807_314-1805delinsACGGTATGGACTGCA
NM_001195803.2:c.314-980_314-978delinsACGGTATGGACTGCA NP_001182732.1:n.314-980_314-978delinsACGGTATGGACTGCA