Canonical Allele Identifier: CA2582475233
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11117139-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117139_11117140insA , CM000681.2:g.11117139_11117140insA GRCh38
NC_000019.9:g.11227815_11227816insA , CM000681.1:g.11227815_11227816insA GRCh37
NC_000019.8:g.11088815_11088816insA NCBI36
NG_009060.1:g.32759_32760insA , LRG_274:g.32759_32760insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+141_2103+142insA ENSP00000252444.6:n.2103+141_2103+142insA
ENST00000559340.2:c.1705+927_1705+928insA ENSP00000453696.2:n.1705+927_1705+928insA
ENST00000560467.2:c.1725+141_1725+142insA ENSP00000453513.2:n.1725+141_1725+142insA
ENST00000558518.6:c.1845+141_1845+142insA MANE Select ENSP00000454071.1:n.1845+141_1845+142insA
ENST00000252444.9:c.2099+141_2099+142insA
ENST00000455727.6:c.1341+141_1341+142insA ENSP00000397829.2:n.1341+141_1341+142insA
ENST00000535915.5:c.1722+141_1722+142insA ENSP00000440520.1:n.1722+141_1722+142insA
ENST00000545707.5:c.1464+141_1464+142insA ENSP00000437639.1:n.1464+141_1464+142insA
ENST00000557933.5:c.1845+141_1845+142insA ENSP00000453557.1:n.1845+141_1845+142insA
ENST00000558013.5:c.1845+141_1845+142insA ENSP00000453346.1:n.1845+141_1845+142insA
ENST00000558518.5:c.1845+141_1845+142insA ENSP00000454071.1:n.1845+141_1845+142insA
ENST00000559340.1:c.426+927_426+928insA
NM_000527.4:c.1845+141_1845+142insA , LRG_274t1:c.1845+141_1845+142insA NP_000518.1:n.1845+141_1845+142insA
NM_001195798.1:c.1845+141_1845+142insA NP_001182727.1:n.1845+141_1845+142insA
NM_001195799.1:c.1722+141_1722+142insA NP_001182728.1:n.1722+141_1722+142insA
NM_001195800.1:c.1341+141_1341+142insA NP_001182729.1:n.1341+141_1341+142insA
NM_001195803.1:c.1464+141_1464+142insA NP_001182732.1:n.1464+141_1464+142insA
XM_011528010.1:c.1845+141_1845+142insA XP_011526312.1:n.1845+141_1845+142insA
XM_011528011.1:c.1464+141_1464+142insA XP_011526313.1:n.1464+141_1464+142insA
XR_244074.2:n.1855+927_1855+928insA
XM_011528010.2:c.1845+141_1845+142insA XP_011526312.1:n.1845+141_1845+142insA
XR_001753685.2:n.1962+141_1962+142insA
XR_001753686.2:n.1822+927_1822+928insA
NM_000527.5:c.1845+141_1845+142insA MANE Select NP_000518.1:n.1845+141_1845+142insA
NM_001195798.2:c.1845+141_1845+142insA NP_001182727.1:n.1845+141_1845+142insA
NM_001195799.2:c.1722+141_1722+142insA NP_001182728.1:n.1722+141_1722+142insA
NM_001195800.2:c.1341+141_1341+142insA NP_001182729.1:n.1341+141_1341+142insA
NM_001195803.2:c.1464+141_1464+142insA NP_001182732.1:n.1464+141_1464+142insA
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