Canonical Allele Identifier: CA631769770
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1186879364

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127964_11127965insTCGCCGTAT , CM000681.2:g.11127964_11127965insTCGCCGTAT GRCh38
NC_000019.9:g.11238640_11238641insTCGCCGTAT , CM000681.1:g.11238640_11238641insTCGCCGTAT GRCh37
NC_000019.8:g.11099640_11099641insTCGCCGTAT NCBI36
NG_009060.1:g.43584_43585insTCGCCGTAT , LRG_274:g.43584_43585insTCGCCGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-44_2570-43insTCGCCGTAT ENSP00000252444.6:n.2570-44_2570-43insTCGCCGTAT
ENST00000559340.2:c.*381-44_*381-43insTCGCCGTAT ENSP00000453696.2:n.*381-44_*381-43insTCGCCGTAT
ENST00000560467.2:c.2192-44_2192-43insTCGCCGTAT ENSP00000453513.2:n.2192-44_2192-43insTCGCCGTAT
ENST00000558518.6:c.2312-44_2312-43insTCGCCGTAT MANE Select ENSP00000454071.1:n.2312-44_2312-43insTCGCCGTAT
ENST00000252444.9:c.2566-44_2566-43insTCGCCGTAT
ENST00000455727.6:c.1808-44_1808-43insTCGCCGTAT ENSP00000397829.2:n.1808-44_1808-43insTCGCCGTAT
ENST00000535915.5:c.2189-44_2189-43insTCGCCGTAT ENSP00000440520.1:n.2189-44_2189-43insTCGCCGTAT
ENST00000545707.5:c.1778-44_1778-43insTCGCCGTAT ENSP00000437639.1:n.1778-44_1778-43insTCGCCGTAT
ENST00000557933.5:c.2312-44_2312-43insTCGCCGTAT ENSP00000453557.1:n.2312-44_2312-43insTCGCCGTAT
ENST00000558013.5:c.2312-44_2312-43insTCGCCGTAT ENSP00000453346.1:n.2312-44_2312-43insTCGCCGTAT
ENST00000558518.5:c.2312-44_2312-43insTCGCCGTAT ENSP00000454071.1:n.2312-44_2312-43insTCGCCGTAT
ENST00000560628.1:n.108+310_108+311insTCGCCGTAT
NM_000527.4:c.2312-44_2312-43insTCGCCGTAT , LRG_274t1:c.2312-44_2312-43insTCGCCGTAT NP_000518.1:n.2312-44_2312-43insTCGCCGTAT
NM_001195798.1:c.2312-44_2312-43insTCGCCGTAT NP_001182727.1:n.2312-44_2312-43insTCGCCGTAT
NM_001195799.1:c.2189-44_2189-43insTCGCCGTAT NP_001182728.1:n.2189-44_2189-43insTCGCCGTAT
NM_001195800.1:c.1808-44_1808-43insTCGCCGTAT NP_001182729.1:n.1808-44_1808-43insTCGCCGTAT
NM_001195803.1:c.1778-44_1778-43insTCGCCGTAT NP_001182732.1:n.1778-44_1778-43insTCGCCGTAT
XM_011528010.1:c.2312-1549_2312-1548insTCGCCGTAT XP_011526312.1:n.2312-1549_2312-1548insTCGCCGTAT
XM_011528011.1:c.1931-44_1931-43insTCGCCGTAT XP_011526313.1:n.1931-44_1931-43insTCGCCGTAT
XR_244074.2:n.2322-44_2322-43insTCGCCGTAT
XM_011528010.2:c.2312-1549_2312-1548insTCGCCGTAT XP_011526312.1:n.2312-1549_2312-1548insTCGCCGTAT
XR_001753685.2:n.2646-44_2646-43insTCGCCGTAT
XR_001753686.2:n.2289-44_2289-43insTCGCCGTAT
NM_000527.5:c.2312-44_2312-43insTCGCCGTAT MANE Select NP_000518.1:n.2312-44_2312-43insTCGCCGTAT
NM_001195798.2:c.2312-44_2312-43insTCGCCGTAT NP_001182727.1:n.2312-44_2312-43insTCGCCGTAT
NM_001195799.2:c.2189-44_2189-43insTCGCCGTAT NP_001182728.1:n.2189-44_2189-43insTCGCCGTAT
NM_001195800.2:c.1808-44_1808-43insTCGCCGTAT NP_001182729.1:n.1808-44_1808-43insTCGCCGTAT
NM_001195803.2:c.1778-44_1778-43insTCGCCGTAT NP_001182732.1:n.1778-44_1778-43insTCGCCGTAT