Canonical Allele Identifier: CA993524770
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127566_11127567insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG , CM000681.2:g.11127566_11127567insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG GRCh38
NC_000019.9:g.11238242_11238243insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG , CM000681.1:g.11238242_11238243insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG GRCh37
NC_000019.8:g.11099242_11099243insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NCBI36
NG_009060.1:g.43186_43187insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG , LRG_274:g.43186_43187insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-442_2570-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000252444.6:n.2570-442_2570-441insAATTTCACCTGCAACCTTGTC...
ENST00000559340.2:c.*381-442_*381-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000453696.2:n.*381-442_*381-441insAATTTCACCTGCAACCTTGTC...
ENST00000560467.2:c.2192-442_2192-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000453513.2:n.2192-442_2192-441insAATTTCACCTGCAACCTTGTC...
ENST00000558518.6:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG MANE Select ENSP00000454071.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTC...
ENST00000252444.9:c.2566-442_2566-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG
ENST00000455727.6:c.1808-442_1808-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000397829.2:n.1808-442_1808-441insAATTTCACCTGCAACCTTGTC...
ENST00000535915.5:c.2189-442_2189-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000440520.1:n.2189-442_2189-441insAATTTCACCTGCAACCTTGTC...
ENST00000545707.5:c.1778-442_1778-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000437639.1:n.1778-442_1778-441insAATTTCACCTGCAACCTTGTC...
ENST00000557933.5:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000453557.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTC...
ENST00000558013.5:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000453346.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTC...
ENST00000558518.5:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG ENSP00000454071.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTC...
ENST00000560628.1:n.20_21insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG
NM_000527.4:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG , LRG_274t1:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_000518.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTA...
NM_001195798.1:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182727.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195799.1:c.2189-442_2189-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182728.1:n.2189-442_2189-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195800.1:c.1808-442_1808-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182729.1:n.1808-442_1808-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195803.1:c.1778-442_1778-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182732.1:n.1778-442_1778-441insAATTTCACCTGCAACCTTGTCAAC...
XM_011528010.1:c.2312-1947_2312-1946insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG XP_011526312.1:n.2312-1947_2312-1946insAATTTCACCTGCAACCTTGTCA...
XM_011528011.1:c.1931-442_1931-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG XP_011526313.1:n.1931-442_1931-441insAATTTCACCTGCAACCTTGTCAAC...
XR_244074.2:n.2322-442_2322-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG
XM_011528010.2:c.2312-1947_2312-1946insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG XP_011526312.1:n.2312-1947_2312-1946insAATTTCACCTGCAACCTTGTCA...
XR_001753685.2:n.2646-442_2646-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG
XR_001753686.2:n.2289-442_2289-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG
NM_000527.5:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG MANE Select NP_000518.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTA...
NM_001195798.2:c.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182727.1:n.2312-442_2312-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195799.2:c.2189-442_2189-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182728.1:n.2189-442_2189-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195800.2:c.1808-442_1808-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182729.1:n.1808-442_1808-441insAATTTCACCTGCAACCTTGTCAAC...
NM_001195803.2:c.1778-442_1778-441insAATTTCACCTGCAACCTTGTCAACCTAAATGCAGAAG NP_001182732.1:n.1778-442_1778-441insAATTTCACCTGCAACCTTGTCAAC...