Canonical Allele Identifier: CA10584887
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251188
ClinVar RCV Id: RCV000237336
dbSNP Id: rs879254500

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105280_11105281insCTGA , CM000681.2:g.11105280_11105281insCTGA GRCh38
NC_000019.9:g.11215956_11215957insCTGA , CM000681.1:g.11215956_11215957insCTGA GRCh37
NC_000019.8:g.11076956_11076957insCTGA NCBI36
NG_009060.1:g.20900_20901insCTGA , LRG_274:g.20900_20901insCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.632_633insCTGA ENSP00000252444.6:p.Gln211HisfsTer2
ENST00000559340.2:c.374_375insCTGA ENSP00000453696.2:p.Gln125HisfsTer2
ENST00000560467.2:c.374_375insCTGA ENSP00000453513.2:p.Gln125HisfsTer2
ENST00000558518.6:c.374_375insCTGA MANE Select ENSP00000454071.1:p.Gln125HisfsTer2
ENST00000252444.9:c.628_629insCTGA
ENST00000455727.6:c.314-2112_314-2111insCTGA ENSP00000397829.2:n.314-2112_314-2111insCTGA
ENST00000535915.5:c.251_252insCTGA ENSP00000440520.1:p.Gln84HisfsTer2
ENST00000545707.5:c.314-1285_314-1284insCTGA ENSP00000437639.1:n.314-1285_314-1284insCTGA
ENST00000557933.5:c.374_375insCTGA ENSP00000453557.1:p.Gln125HisfsTer2
ENST00000558013.5:c.374_375insCTGA ENSP00000453346.1:p.Gln125HisfsTer2
ENST00000558518.5:c.374_375insCTGA ENSP00000454071.1:p.Gln125HisfsTer2
NM_000527.4:c.374_375insCTGA , LRG_274t1:c.374_375insCTGA NP_000518.1:p.Gln125HisfsTer2
NM_001195798.1:c.374_375insCTGA NP_001182727.1:p.Gln125HisfsTer2
NM_001195799.1:c.251_252insCTGA NP_001182728.1:p.Gln84HisfsTer2
NM_001195800.1:c.314-2112_314-2111insCTGA NP_001182729.1:n.314-2112_314-2111insCTGA
NM_001195803.1:c.314-1285_314-1284insCTGA NP_001182732.1:n.314-1285_314-1284insCTGA
XM_011528010.1:c.374_375insCTGA XP_011526312.1:p.Gln125HisfsTer2
XM_011528011.1:c.314-1285_314-1284insCTGA XP_011526313.1:n.314-1285_314-1284insCTGA
XR_244074.2:n.524_525insCTGA
XM_011528010.2:c.374_375insCTGA XP_011526312.1:p.Gln125HisfsTer2
XR_001753685.2:n.491_492insCTGA
XR_001753686.2:n.491_492insCTGA
NM_000527.5:c.374_375insCTGA MANE Select NP_000518.1:p.Gln125HisfsTer2
NM_001195798.2:c.374_375insCTGA NP_001182727.1:p.Gln125HisfsTer2
NM_001195799.2:c.251_252insCTGA NP_001182728.1:p.Gln84HisfsTer2
NM_001195800.2:c.314-2112_314-2111insCTGA NP_001182729.1:n.314-2112_314-2111insCTGA
NM_001195803.2:c.314-1285_314-1284insCTGA NP_001182732.1:n.314-1285_314-1284insCTGA