Canonical Allele Identifier: CA2582473400
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11105604-TGGGCGGGGCCAGGGTGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105614_11105630del , CM000681.2:g.11105614_11105630del GRCh38
NC_000019.9:g.11216290_11216306del , CM000681.1:g.11216290_11216306del GRCh37
NC_000019.8:g.11077290_11077306del NCBI36
NG_009060.1:g.21234_21250del , LRG_274:g.21234_21250del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.952+14_952+30del ENSP00000252444.6:n.952+14_952+30del
ENST00000559340.2:c.694+14_694+30del ENSP00000453696.2:n.694+14_694+30del
ENST00000560467.2:c.694+14_694+30del ENSP00000453513.2:n.694+14_694+30del
ENST00000558518.6:c.694+14_694+30del MANE Select ENSP00000454071.1:n.694+14_694+30del
ENST00000252444.9:c.948+14_948+30del
ENST00000455727.6:c.314-1778_314-1762del ENSP00000397829.2:n.314-1778_314-1762del
ENST00000535915.5:c.571+14_571+30del ENSP00000440520.1:n.571+14_571+30del
ENST00000545707.5:c.314-951_314-935del ENSP00000437639.1:n.314-951_314-935del
ENST00000557933.5:c.694+14_694+30del ENSP00000453557.1:n.694+14_694+30del
ENST00000558013.5:c.694+14_694+30del ENSP00000453346.1:n.694+14_694+30del
ENST00000558518.5:c.694+14_694+30del ENSP00000454071.1:n.694+14_694+30del
ENST00000560467.1:c.294+14_294+30del
NM_000527.4:c.694+14_694+30del , LRG_274t1:c.694+14_694+30del NP_000518.1:n.694+14_694+30del
NM_001195798.1:c.694+14_694+30del NP_001182727.1:n.694+14_694+30del
NM_001195799.1:c.571+14_571+30del NP_001182728.1:n.571+14_571+30del
NM_001195800.1:c.314-1778_314-1762del NP_001182729.1:n.314-1778_314-1762del
NM_001195803.1:c.314-951_314-935del NP_001182732.1:n.314-951_314-935del
XM_011528010.1:c.694+14_694+30del XP_011526312.1:n.694+14_694+30del
XM_011528011.1:c.314-951_314-935del XP_011526313.1:n.314-951_314-935del
XR_244074.2:n.844+14_844+30del
XM_011528010.2:c.694+14_694+30del XP_011526312.1:n.694+14_694+30del
XR_001753685.2:n.811+14_811+30del
XR_001753686.2:n.811+14_811+30del
NM_000527.5:c.694+14_694+30del MANE Select NP_000518.1:n.694+14_694+30del
NM_001195798.2:c.694+14_694+30del NP_001182727.1:n.694+14_694+30del
NM_001195799.2:c.571+14_571+30del NP_001182728.1:n.571+14_571+30del
NM_001195800.2:c.314-1778_314-1762del NP_001182729.1:n.314-1778_314-1762del
NM_001195803.2:c.314-951_314-935del NP_001182732.1:n.314-951_314-935del
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