Canonical Allele Identifier: CA2582475214
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11117134-CTTTCTTTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117138_11117145del , CM000681.2:g.11117138_11117145del GRCh38
NC_000019.9:g.11227814_11227821del , CM000681.1:g.11227814_11227821del GRCh37
NC_000019.8:g.11088814_11088821del NCBI36
NG_009060.1:g.32758_32765del , LRG_274:g.32758_32765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+140_2103+147del ENSP00000252444.6:n.2103+140_2103+147del
ENST00000559340.2:c.1705+926_1705+933del ENSP00000453696.2:n.1705+926_1705+933del
ENST00000560467.2:c.1725+140_1725+147del ENSP00000453513.2:n.1725+140_1725+147del
ENST00000558518.6:c.1845+140_1845+147del MANE Select ENSP00000454071.1:n.1845+140_1845+147del
ENST00000252444.9:c.2099+140_2099+147del
ENST00000455727.6:c.1341+140_1341+147del ENSP00000397829.2:n.1341+140_1341+147del
ENST00000535915.5:c.1722+140_1722+147del ENSP00000440520.1:n.1722+140_1722+147del
ENST00000545707.5:c.1464+140_1464+147del ENSP00000437639.1:n.1464+140_1464+147del
ENST00000557933.5:c.1845+140_1845+147del ENSP00000453557.1:n.1845+140_1845+147del
ENST00000558013.5:c.1845+140_1845+147del ENSP00000453346.1:n.1845+140_1845+147del
ENST00000558518.5:c.1845+140_1845+147del ENSP00000454071.1:n.1845+140_1845+147del
ENST00000559340.1:c.426+926_426+933del
NM_000527.4:c.1845+140_1845+147del , LRG_274t1:c.1845+140_1845+147del NP_000518.1:n.1845+140_1845+147del
NM_001195798.1:c.1845+140_1845+147del NP_001182727.1:n.1845+140_1845+147del
NM_001195799.1:c.1722+140_1722+147del NP_001182728.1:n.1722+140_1722+147del
NM_001195800.1:c.1341+140_1341+147del NP_001182729.1:n.1341+140_1341+147del
NM_001195803.1:c.1464+140_1464+147del NP_001182732.1:n.1464+140_1464+147del
XM_011528010.1:c.1845+140_1845+147del XP_011526312.1:n.1845+140_1845+147del
XM_011528011.1:c.1464+140_1464+147del XP_011526313.1:n.1464+140_1464+147del
XR_244074.2:n.1855+926_1855+933del
XM_011528010.2:c.1845+140_1845+147del XP_011526312.1:n.1845+140_1845+147del
XR_001753685.2:n.1962+140_1962+147del
XR_001753686.2:n.1822+926_1822+933del
NM_000527.5:c.1845+140_1845+147del MANE Select NP_000518.1:n.1845+140_1845+147del
NM_001195798.2:c.1845+140_1845+147del NP_001182727.1:n.1845+140_1845+147del
NM_001195799.2:c.1722+140_1722+147del NP_001182728.1:n.1722+140_1722+147del
NM_001195800.2:c.1341+140_1341+147del NP_001182729.1:n.1341+140_1341+147del
NM_001195803.2:c.1464+140_1464+147del NP_001182732.1:n.1464+140_1464+147del
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