Canonical Allele Identifier: CA920058639
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs58321173
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117148_11117155dup , CM000681.2:g.11117148_11117155dup GRCh38
NC_000019.9:g.11227824_11227831dup , CM000681.1:g.11227824_11227831dup GRCh37
NC_000019.8:g.11088824_11088831dup NCBI36
NG_009060.1:g.32768_32775dup , LRG_274:g.32768_32775dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+150_2103+157dup ENSP00000252444.6:n.2103+150_2103+157dup
ENST00000559340.2:c.1705+936_1705+943dup ENSP00000453696.2:n.1705+936_1705+943dup
ENST00000560467.2:c.1725+150_1725+157dup ENSP00000453513.2:n.1725+150_1725+157dup
ENST00000558518.6:c.1845+150_1845+157dup MANE Select ENSP00000454071.1:n.1845+150_1845+157dup
ENST00000252444.9:c.2099+150_2099+157dup
ENST00000455727.6:c.1341+150_1341+157dup ENSP00000397829.2:n.1341+150_1341+157dup
ENST00000535915.5:c.1722+150_1722+157dup ENSP00000440520.1:n.1722+150_1722+157dup
ENST00000545707.5:c.1464+150_1464+157dup ENSP00000437639.1:n.1464+150_1464+157dup
ENST00000557933.5:c.1845+150_1845+157dup ENSP00000453557.1:n.1845+150_1845+157dup
ENST00000558013.5:c.1845+150_1845+157dup ENSP00000453346.1:n.1845+150_1845+157dup
ENST00000558518.5:c.1845+150_1845+157dup ENSP00000454071.1:n.1845+150_1845+157dup
ENST00000559340.1:c.426+936_426+943dup
NM_000527.4:c.1845+150_1845+157dup , LRG_274t1:c.1845+150_1845+157dup NP_000518.1:n.1845+150_1845+157dup
NM_001195798.1:c.1845+150_1845+157dup NP_001182727.1:n.1845+150_1845+157dup
NM_001195799.1:c.1722+150_1722+157dup NP_001182728.1:n.1722+150_1722+157dup
NM_001195800.1:c.1341+150_1341+157dup NP_001182729.1:n.1341+150_1341+157dup
NM_001195803.1:c.1464+150_1464+157dup NP_001182732.1:n.1464+150_1464+157dup
XM_011528010.1:c.1845+150_1845+157dup XP_011526312.1:n.1845+150_1845+157dup
XM_011528011.1:c.1464+150_1464+157dup XP_011526313.1:n.1464+150_1464+157dup
XR_244074.2:n.1855+936_1855+943dup
XM_011528010.2:c.1845+150_1845+157dup XP_011526312.1:n.1845+150_1845+157dup
XR_001753685.2:n.1962+150_1962+157dup
XR_001753686.2:n.1822+936_1822+943dup
NM_000527.5:c.1845+150_1845+157dup MANE Select NP_000518.1:n.1845+150_1845+157dup
NM_001195798.2:c.1845+150_1845+157dup NP_001182727.1:n.1845+150_1845+157dup
NM_001195799.2:c.1722+150_1722+157dup NP_001182728.1:n.1722+150_1722+157dup
NM_001195800.2:c.1341+150_1341+157dup NP_001182729.1:n.1341+150_1341+157dup
NM_001195803.2:c.1464+150_1464+157dup NP_001182732.1:n.1464+150_1464+157dup
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