Canonical Allele Identifier: CA2322774159
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1010117190
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117819_11117820dup , CM000681.2:g.11117819_11117820dup GRCh38
NC_000019.9:g.11228495_11228496dup , CM000681.1:g.11228495_11228496dup GRCh37
NC_000019.8:g.11089495_11089496dup NCBI36
NG_009060.1:g.33439_33440dup , LRG_274:g.33439_33440dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+821_2103+822dup ENSP00000252444.6:n.2103+821_2103+822dup
ENST00000559340.2:c.1705+1607_1705+1608dup ENSP00000453696.2:n.1705+1607_1705+1608dup
ENST00000560467.2:c.1725+821_1725+822dup ENSP00000453513.2:n.1725+821_1725+822dup
ENST00000558518.6:c.1845+821_1845+822dup MANE Select ENSP00000454071.1:n.1845+821_1845+822dup
ENST00000252444.9:c.2099+821_2099+822dup
ENST00000455727.6:c.1341+821_1341+822dup ENSP00000397829.2:n.1341+821_1341+822dup
ENST00000535915.5:c.1722+821_1722+822dup ENSP00000440520.1:n.1722+821_1722+822dup
ENST00000545707.5:c.1464+821_1464+822dup ENSP00000437639.1:n.1464+821_1464+822dup
ENST00000557933.5:c.1845+821_1845+822dup ENSP00000453557.1:n.1845+821_1845+822dup
ENST00000558013.5:c.1845+821_1845+822dup ENSP00000453346.1:n.1845+821_1845+822dup
ENST00000558518.5:c.1845+821_1845+822dup ENSP00000454071.1:n.1845+821_1845+822dup
ENST00000559340.1:c.426+1607_426+1608dup
NM_000527.4:c.1845+821_1845+822dup , LRG_274t1:c.1845+821_1845+822dup NP_000518.1:n.1845+821_1845+822dup
NM_001195798.1:c.1845+821_1845+822dup NP_001182727.1:n.1845+821_1845+822dup
NM_001195799.1:c.1722+821_1722+822dup NP_001182728.1:n.1722+821_1722+822dup
NM_001195800.1:c.1341+821_1341+822dup NP_001182729.1:n.1341+821_1341+822dup
NM_001195803.1:c.1464+821_1464+822dup NP_001182732.1:n.1464+821_1464+822dup
XM_011528010.1:c.1845+821_1845+822dup XP_011526312.1:n.1845+821_1845+822dup
XM_011528011.1:c.1464+821_1464+822dup XP_011526313.1:n.1464+821_1464+822dup
XR_244074.2:n.1855+1607_1855+1608dup
XM_011528010.2:c.1845+821_1845+822dup XP_011526312.1:n.1845+821_1845+822dup
XR_001753685.2:n.1962+821_1962+822dup
XR_001753686.2:n.1822+1607_1822+1608dup
NM_000527.5:c.1845+821_1845+822dup MANE Select NP_000518.1:n.1845+821_1845+822dup
NM_001195798.2:c.1845+821_1845+822dup NP_001182727.1:n.1845+821_1845+822dup
NM_001195799.2:c.1722+821_1722+822dup NP_001182728.1:n.1722+821_1722+822dup
NM_001195800.2:c.1341+821_1341+822dup NP_001182729.1:n.1341+821_1341+822dup
NM_001195803.2:c.1464+821_1464+822dup NP_001182732.1:n.1464+821_1464+822dup
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