Canonical Allele Identifier: CA2322767626
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105585_11105587delinsGAC , CM000681.2:g.11105585_11105587delinsGAC GRCh38
NC_000019.9:g.11216261_11216263delinsGAC , CM000681.1:g.11216261_11216263delinsGAC GRCh37
NC_000019.8:g.11077261_11077263delinsGAC NCBI36
NG_009060.1:g.21205_21207delinsGAC , LRG_274:g.21205_21207delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.937_939delinsGAC ENSP00000252444.6:p.Asp313=
ENST00000559340.2:c.679_681delinsGAC ENSP00000453696.2:p.Asp227=
ENST00000560467.2:c.679_681delinsGAC ENSP00000453513.2:p.Asp227=
ENST00000558518.6:c.679_681delinsGAC MANE Select ENSP00000454071.1:p.Asp227=
ENST00000252444.9:c.933_935delinsGAC
ENST00000455727.6:c.314-1807_314-1805delinsGAC ENSP00000397829.2:n.314-1807_314-1805delinsGAC
ENST00000535915.5:c.556_558delinsGAC ENSP00000440520.1:p.Asp186=
ENST00000545707.5:c.314-980_314-978delinsGAC ENSP00000437639.1:n.314-980_314-978delinsGAC
ENST00000557933.5:c.679_681delinsGAC ENSP00000453557.1:p.Asp227=
ENST00000558013.5:c.679_681delinsGAC ENSP00000453346.1:p.Asp227=
ENST00000558518.5:c.679_681delinsGAC ENSP00000454071.1:p.Asp227=
ENST00000560467.1:c.279_281delinsGAC
NM_000527.4:c.679_681delinsGAC , LRG_274t1:c.679_681delinsGAC NP_000518.1:p.Asp227=
NM_001195798.1:c.679_681delinsGAC NP_001182727.1:p.Asp227=
NM_001195799.1:c.556_558delinsGAC NP_001182728.1:p.Asp186=
NM_001195800.1:c.314-1807_314-1805delinsGAC NP_001182729.1:n.314-1807_314-1805delinsGAC
NM_001195803.1:c.314-980_314-978delinsGAC NP_001182732.1:n.314-980_314-978delinsGAC
XM_011528010.1:c.679_681delinsGAC XP_011526312.1:p.Asp227=
XM_011528011.1:c.314-980_314-978delinsGAC XP_011526313.1:n.314-980_314-978delinsGAC
XR_244074.2:n.829_831delinsGAC
XM_011528010.2:c.679_681delinsGAC XP_011526312.1:p.Asp227=
XR_001753685.2:n.796_798delinsGAC
XR_001753686.2:n.796_798delinsGAC
NM_000527.5:c.679_681delinsGAC MANE Select NP_000518.1:p.Asp227=
NM_001195798.2:c.679_681delinsGAC NP_001182727.1:p.Asp227=
NM_001195799.2:c.556_558delinsGAC NP_001182728.1:p.Asp186=
NM_001195800.2:c.314-1807_314-1805delinsGAC NP_001182729.1:n.314-1807_314-1805delinsGAC
NM_001195803.2:c.314-980_314-978delinsGAC NP_001182732.1:n.314-980_314-978delinsGAC