Canonical Allele Identifier: CA2582475239
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11117141-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117141_11117142insC , CM000681.2:g.11117141_11117142insC GRCh38
NC_000019.9:g.11227817_11227818insC , CM000681.1:g.11227817_11227818insC GRCh37
NC_000019.8:g.11088817_11088818insC NCBI36
NG_009060.1:g.32761_32762insC , LRG_274:g.32761_32762insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+143_2103+144insC ENSP00000252444.6:n.2103+143_2103+144insC
ENST00000559340.2:c.1705+929_1705+930insC ENSP00000453696.2:n.1705+929_1705+930insC
ENST00000560467.2:c.1725+143_1725+144insC ENSP00000453513.2:n.1725+143_1725+144insC
ENST00000558518.6:c.1845+143_1845+144insC MANE Select ENSP00000454071.1:n.1845+143_1845+144insC
ENST00000252444.9:c.2099+143_2099+144insC
ENST00000455727.6:c.1341+143_1341+144insC ENSP00000397829.2:n.1341+143_1341+144insC
ENST00000535915.5:c.1722+143_1722+144insC ENSP00000440520.1:n.1722+143_1722+144insC
ENST00000545707.5:c.1464+143_1464+144insC ENSP00000437639.1:n.1464+143_1464+144insC
ENST00000557933.5:c.1845+143_1845+144insC ENSP00000453557.1:n.1845+143_1845+144insC
ENST00000558013.5:c.1845+143_1845+144insC ENSP00000453346.1:n.1845+143_1845+144insC
ENST00000558518.5:c.1845+143_1845+144insC ENSP00000454071.1:n.1845+143_1845+144insC
ENST00000559340.1:c.426+929_426+930insC
NM_000527.4:c.1845+143_1845+144insC , LRG_274t1:c.1845+143_1845+144insC NP_000518.1:n.1845+143_1845+144insC
NM_001195798.1:c.1845+143_1845+144insC NP_001182727.1:n.1845+143_1845+144insC
NM_001195799.1:c.1722+143_1722+144insC NP_001182728.1:n.1722+143_1722+144insC
NM_001195800.1:c.1341+143_1341+144insC NP_001182729.1:n.1341+143_1341+144insC
NM_001195803.1:c.1464+143_1464+144insC NP_001182732.1:n.1464+143_1464+144insC
XM_011528010.1:c.1845+143_1845+144insC XP_011526312.1:n.1845+143_1845+144insC
XM_011528011.1:c.1464+143_1464+144insC XP_011526313.1:n.1464+143_1464+144insC
XR_244074.2:n.1855+929_1855+930insC
XM_011528010.2:c.1845+143_1845+144insC XP_011526312.1:n.1845+143_1845+144insC
XR_001753685.2:n.1962+143_1962+144insC
XR_001753686.2:n.1822+929_1822+930insC
NM_000527.5:c.1845+143_1845+144insC MANE Select NP_000518.1:n.1845+143_1845+144insC
NM_001195798.2:c.1845+143_1845+144insC NP_001182727.1:n.1845+143_1845+144insC
NM_001195799.2:c.1722+143_1722+144insC NP_001182728.1:n.1722+143_1722+144insC
NM_001195800.2:c.1341+143_1341+144insC NP_001182729.1:n.1341+143_1341+144insC
NM_001195803.2:c.1464+143_1464+144insC NP_001182732.1:n.1464+143_1464+144insC
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