Canonical Allele Identifier: CA2322767689
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105657_11105659delinsCCA , CM000681.2:g.11105657_11105659delinsCCA GRCh38
NC_000019.9:g.11216333_11216335delinsCCA , CM000681.1:g.11216333_11216335delinsCCA GRCh37
NC_000019.8:g.11077333_11077335delinsCCA NCBI36
NG_009060.1:g.21277_21279delinsCCA , LRG_274:g.21277_21279delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.952+57_952+59delinsCCA ENSP00000252444.6:n.952+57_952+59delinsCCA
ENST00000559340.2:c.694+57_694+59delinsCCA ENSP00000453696.2:n.694+57_694+59delinsCCA
ENST00000560467.2:c.694+57_694+59delinsCCA ENSP00000453513.2:n.694+57_694+59delinsCCA
ENST00000558518.6:c.694+57_694+59delinsCCA MANE Select ENSP00000454071.1:n.694+57_694+59delinsCCA
ENST00000252444.9:c.948+57_948+59delinsCCA
ENST00000455727.6:c.314-1735_314-1733delinsCCA ENSP00000397829.2:n.314-1735_314-1733delinsCCA
ENST00000535915.5:c.571+57_571+59delinsCCA ENSP00000440520.1:n.571+57_571+59delinsCCA
ENST00000545707.5:c.314-908_314-906delinsCCA ENSP00000437639.1:n.314-908_314-906delinsCCA
ENST00000557933.5:c.694+57_694+59delinsCCA ENSP00000453557.1:n.694+57_694+59delinsCCA
ENST00000558013.5:c.694+57_694+59delinsCCA ENSP00000453346.1:n.694+57_694+59delinsCCA
ENST00000558518.5:c.694+57_694+59delinsCCA ENSP00000454071.1:n.694+57_694+59delinsCCA
ENST00000560467.1:c.294+57_294+59delinsCCA
NM_000527.4:c.694+57_694+59delinsCCA , LRG_274t1:c.694+57_694+59delinsCCA NP_000518.1:n.694+57_694+59delinsCCA
NM_001195798.1:c.694+57_694+59delinsCCA NP_001182727.1:n.694+57_694+59delinsCCA
NM_001195799.1:c.571+57_571+59delinsCCA NP_001182728.1:n.571+57_571+59delinsCCA
NM_001195800.1:c.314-1735_314-1733delinsCCA NP_001182729.1:n.314-1735_314-1733delinsCCA
NM_001195803.1:c.314-908_314-906delinsCCA NP_001182732.1:n.314-908_314-906delinsCCA
XM_011528010.1:c.694+57_694+59delinsCCA XP_011526312.1:n.694+57_694+59delinsCCA
XM_011528011.1:c.314-908_314-906delinsCCA XP_011526313.1:n.314-908_314-906delinsCCA
XR_244074.2:n.844+57_844+59delinsCCA
XM_011528010.2:c.694+57_694+59delinsCCA XP_011526312.1:n.694+57_694+59delinsCCA
XR_001753685.2:n.811+57_811+59delinsCCA
XR_001753686.2:n.811+57_811+59delinsCCA
NM_000527.5:c.694+57_694+59delinsCCA MANE Select NP_000518.1:n.694+57_694+59delinsCCA
NM_001195798.2:c.694+57_694+59delinsCCA NP_001182727.1:n.694+57_694+59delinsCCA
NM_001195799.2:c.571+57_571+59delinsCCA NP_001182728.1:n.571+57_571+59delinsCCA
NM_001195800.2:c.314-1735_314-1733delinsCCA NP_001182729.1:n.314-1735_314-1733delinsCCA
NM_001195803.2:c.314-908_314-906delinsCCA NP_001182732.1:n.314-908_314-906delinsCCA
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