Canonical Allele Identifier: CA2322767569
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105551_11105552delinsCT , CM000681.2:g.11105551_11105552delinsCT GRCh38
NC_000019.9:g.11216227_11216228delinsCT , CM000681.1:g.11216227_11216228delinsCT GRCh37
NC_000019.8:g.11077227_11077228delinsCT NCBI36
NG_009060.1:g.21171_21172delinsCT , LRG_274:g.21171_21172delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.903_904delinsCT ENSP00000252444.6:p.Arg301=
ENST00000559340.2:c.645_646delinsCT ENSP00000453696.2:p.Arg215=
ENST00000560467.2:c.645_646delinsCT ENSP00000453513.2:p.Arg215=
ENST00000558518.6:c.645_646delinsCT MANE Select ENSP00000454071.1:p.Arg215=
ENST00000252444.9:c.899_900delinsCT
ENST00000455727.6:c.314-1841_314-1840delinsCT ENSP00000397829.2:n.314-1841_314-1840delinsCT
ENST00000535915.5:c.522_523delinsCT ENSP00000440520.1:p.Arg174=
ENST00000545707.5:c.314-1014_314-1013delinsCT ENSP00000437639.1:n.314-1014_314-1013delinsCT
ENST00000557933.5:c.645_646delinsCT ENSP00000453557.1:p.Arg215=
ENST00000558013.5:c.645_646delinsCT ENSP00000453346.1:p.Arg215=
ENST00000558518.5:c.645_646delinsCT ENSP00000454071.1:p.Arg215=
ENST00000560467.1:c.245_246delinsCT
NM_000527.4:c.645_646delinsCT , LRG_274t1:c.645_646delinsCT NP_000518.1:p.Arg215=
NM_001195798.1:c.645_646delinsCT NP_001182727.1:p.Arg215=
NM_001195799.1:c.522_523delinsCT NP_001182728.1:p.Arg174=
NM_001195800.1:c.314-1841_314-1840delinsCT NP_001182729.1:n.314-1841_314-1840delinsCT
NM_001195803.1:c.314-1014_314-1013delinsCT NP_001182732.1:n.314-1014_314-1013delinsCT
XM_011528010.1:c.645_646delinsCT XP_011526312.1:p.Arg215=
XM_011528011.1:c.314-1014_314-1013delinsCT XP_011526313.1:n.314-1014_314-1013delinsCT
XR_244074.2:n.795_796delinsCT
XM_011528010.2:c.645_646delinsCT XP_011526312.1:p.Arg215=
XR_001753685.2:n.762_763delinsCT
XR_001753686.2:n.762_763delinsCT
NM_000527.5:c.645_646delinsCT MANE Select NP_000518.1:p.Arg215=
NM_001195798.2:c.645_646delinsCT NP_001182727.1:p.Arg215=
NM_001195799.2:c.522_523delinsCT NP_001182728.1:p.Arg174=
NM_001195800.2:c.314-1841_314-1840delinsCT NP_001182729.1:n.314-1841_314-1840delinsCT
NM_001195803.2:c.314-1014_314-1013delinsCT NP_001182732.1:n.314-1014_314-1013delinsCT