Canonical Allele Identifier: CA2322773843
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077478331
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117140_11117141insG , CM000681.2:g.11117140_11117141insG GRCh38
NC_000019.9:g.11227816_11227817insG , CM000681.1:g.11227816_11227817insG GRCh37
NC_000019.8:g.11088816_11088817insG NCBI36
NG_009060.1:g.32760_32761insG , LRG_274:g.32760_32761insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+142_2103+143insG ENSP00000252444.6:n.2103+142_2103+143insG
ENST00000559340.2:c.1705+928_1705+929insG ENSP00000453696.2:n.1705+928_1705+929insG
ENST00000560467.2:c.1725+142_1725+143insG ENSP00000453513.2:n.1725+142_1725+143insG
ENST00000558518.6:c.1845+142_1845+143insG MANE Select ENSP00000454071.1:n.1845+142_1845+143insG
ENST00000252444.9:c.2099+142_2099+143insG
ENST00000455727.6:c.1341+142_1341+143insG ENSP00000397829.2:n.1341+142_1341+143insG
ENST00000535915.5:c.1722+142_1722+143insG ENSP00000440520.1:n.1722+142_1722+143insG
ENST00000545707.5:c.1464+142_1464+143insG ENSP00000437639.1:n.1464+142_1464+143insG
ENST00000557933.5:c.1845+142_1845+143insG ENSP00000453557.1:n.1845+142_1845+143insG
ENST00000558013.5:c.1845+142_1845+143insG ENSP00000453346.1:n.1845+142_1845+143insG
ENST00000558518.5:c.1845+142_1845+143insG ENSP00000454071.1:n.1845+142_1845+143insG
ENST00000559340.1:c.426+928_426+929insG
NM_000527.4:c.1845+142_1845+143insG , LRG_274t1:c.1845+142_1845+143insG NP_000518.1:n.1845+142_1845+143insG
NM_001195798.1:c.1845+142_1845+143insG NP_001182727.1:n.1845+142_1845+143insG
NM_001195799.1:c.1722+142_1722+143insG NP_001182728.1:n.1722+142_1722+143insG
NM_001195800.1:c.1341+142_1341+143insG NP_001182729.1:n.1341+142_1341+143insG
NM_001195803.1:c.1464+142_1464+143insG NP_001182732.1:n.1464+142_1464+143insG
XM_011528010.1:c.1845+142_1845+143insG XP_011526312.1:n.1845+142_1845+143insG
XM_011528011.1:c.1464+142_1464+143insG XP_011526313.1:n.1464+142_1464+143insG
XR_244074.2:n.1855+928_1855+929insG
XM_011528010.2:c.1845+142_1845+143insG XP_011526312.1:n.1845+142_1845+143insG
XR_001753685.2:n.1962+142_1962+143insG
XR_001753686.2:n.1822+928_1822+929insG
NM_000527.5:c.1845+142_1845+143insG MANE Select NP_000518.1:n.1845+142_1845+143insG
NM_001195798.2:c.1845+142_1845+143insG NP_001182727.1:n.1845+142_1845+143insG
NM_001195799.2:c.1722+142_1722+143insG NP_001182728.1:n.1722+142_1722+143insG
NM_001195800.2:c.1341+142_1341+143insG NP_001182729.1:n.1341+142_1341+143insG
NM_001195803.2:c.1464+142_1464+143insG NP_001182732.1:n.1464+142_1464+143insG
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