Canonical Allele Identifier: CA2322774224
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077488826
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117944_11117945insA , CM000681.2:g.11117944_11117945insA GRCh38
NC_000019.9:g.11228620_11228621insA , CM000681.1:g.11228620_11228621insA GRCh37
NC_000019.8:g.11089620_11089621insA NCBI36
NG_009060.1:g.33564_33565insA , LRG_274:g.33564_33565insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+946_2103+947insA ENSP00000252444.6:n.2103+946_2103+947insA
ENST00000559340.2:c.1705+1732_1705+1733insA ENSP00000453696.2:n.1705+1732_1705+1733insA
ENST00000560467.2:c.1725+946_1725+947insA ENSP00000453513.2:n.1725+946_1725+947insA
ENST00000558518.6:c.1845+946_1845+947insA MANE Select ENSP00000454071.1:n.1845+946_1845+947insA
ENST00000252444.9:c.2099+946_2099+947insA
ENST00000455727.6:c.1341+946_1341+947insA ENSP00000397829.2:n.1341+946_1341+947insA
ENST00000535915.5:c.1722+946_1722+947insA ENSP00000440520.1:n.1722+946_1722+947insA
ENST00000545707.5:c.1464+946_1464+947insA ENSP00000437639.1:n.1464+946_1464+947insA
ENST00000557933.5:c.1845+946_1845+947insA ENSP00000453557.1:n.1845+946_1845+947insA
ENST00000558013.5:c.1845+946_1845+947insA ENSP00000453346.1:n.1845+946_1845+947insA
ENST00000558518.5:c.1845+946_1845+947insA ENSP00000454071.1:n.1845+946_1845+947insA
ENST00000559340.1:c.426+1732_426+1733insA
NM_000527.4:c.1845+946_1845+947insA , LRG_274t1:c.1845+946_1845+947insA NP_000518.1:n.1845+946_1845+947insA
NM_001195798.1:c.1845+946_1845+947insA NP_001182727.1:n.1845+946_1845+947insA
NM_001195799.1:c.1722+946_1722+947insA NP_001182728.1:n.1722+946_1722+947insA
NM_001195800.1:c.1341+946_1341+947insA NP_001182729.1:n.1341+946_1341+947insA
NM_001195803.1:c.1464+946_1464+947insA NP_001182732.1:n.1464+946_1464+947insA
XM_011528010.1:c.1845+946_1845+947insA XP_011526312.1:n.1845+946_1845+947insA
XM_011528011.1:c.1464+946_1464+947insA XP_011526313.1:n.1464+946_1464+947insA
XR_244074.2:n.1855+1732_1855+1733insA
XM_011528010.2:c.1845+946_1845+947insA XP_011526312.1:n.1845+946_1845+947insA
XR_001753685.2:n.1962+946_1962+947insA
XR_001753686.2:n.1822+1732_1822+1733insA
NM_000527.5:c.1845+946_1845+947insA MANE Select NP_000518.1:n.1845+946_1845+947insA
NM_001195798.2:c.1845+946_1845+947insA NP_001182727.1:n.1845+946_1845+947insA
NM_001195799.2:c.1722+946_1722+947insA NP_001182728.1:n.1722+946_1722+947insA
NM_001195800.2:c.1341+946_1341+947insA NP_001182729.1:n.1341+946_1341+947insA
NM_001195803.2:c.1464+946_1464+947insA NP_001182732.1:n.1464+946_1464+947insA
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