Canonical Allele Identifier: CA2322767466
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105436_11105437delinsCG , CM000681.2:g.11105436_11105437delinsCG GRCh38
NC_000019.9:g.11216112_11216113delinsCG , CM000681.1:g.11216112_11216113delinsCG GRCh37
NC_000019.8:g.11077112_11077113delinsCG NCBI36
NG_009060.1:g.21056_21057delinsCG , LRG_274:g.21056_21057delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.788_789delinsCG ENSP00000252444.6:p.Ser263=
ENST00000559340.2:c.530_531delinsCG ENSP00000453696.2:p.Ser177=
ENST00000560467.2:c.530_531delinsCG ENSP00000453513.2:p.Ser177=
ENST00000558518.6:c.530_531delinsCG MANE Select ENSP00000454071.1:p.Ser177=
ENST00000252444.9:c.784_785delinsCG
ENST00000455727.6:c.314-1956_314-1955delinsCG ENSP00000397829.2:n.314-1956_314-1955delinsCG
ENST00000535915.5:c.407_408delinsCG ENSP00000440520.1:p.Ser136=
ENST00000545707.5:c.314-1129_314-1128delinsCG ENSP00000437639.1:n.314-1129_314-1128delinsCG
ENST00000557933.5:c.530_531delinsCG ENSP00000453557.1:p.Ser177=
ENST00000558013.5:c.530_531delinsCG ENSP00000453346.1:p.Ser177=
ENST00000558518.5:c.530_531delinsCG ENSP00000454071.1:p.Ser177=
ENST00000560467.1:c.130_131delinsCG
NM_000527.4:c.530_531delinsCG , LRG_274t1:c.530_531delinsCG NP_000518.1:p.Ser177=
NM_001195798.1:c.530_531delinsCG NP_001182727.1:p.Ser177=
NM_001195799.1:c.407_408delinsCG NP_001182728.1:p.Ser136=
NM_001195800.1:c.314-1956_314-1955delinsCG NP_001182729.1:n.314-1956_314-1955delinsCG
NM_001195803.1:c.314-1129_314-1128delinsCG NP_001182732.1:n.314-1129_314-1128delinsCG
XM_011528010.1:c.530_531delinsCG XP_011526312.1:p.Ser177=
XM_011528011.1:c.314-1129_314-1128delinsCG XP_011526313.1:n.314-1129_314-1128delinsCG
XR_244074.2:n.680_681delinsCG
XM_011528010.2:c.530_531delinsCG XP_011526312.1:p.Ser177=
XR_001753685.2:n.647_648delinsCG
XR_001753686.2:n.647_648delinsCG
NM_000527.5:c.530_531delinsCG MANE Select NP_000518.1:p.Ser177=
NM_001195798.2:c.530_531delinsCG NP_001182727.1:p.Ser177=
NM_001195799.2:c.407_408delinsCG NP_001182728.1:p.Ser136=
NM_001195800.2:c.314-1956_314-1955delinsCG NP_001182729.1:n.314-1956_314-1955delinsCG
NM_001195803.2:c.314-1129_314-1128delinsCG NP_001182732.1:n.314-1129_314-1128delinsCG