Canonical Allele Identifier: CA2582472257
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11102816-CCTAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102819_11102822del , CM000681.2:g.11102819_11102822del GRCh38
NC_000019.9:g.11213495_11213498del , CM000681.1:g.11213495_11213498del GRCh37
NC_000019.8:g.11074495_11074498del NCBI36
NG_009060.1:g.18439_18442del , LRG_274:g.18439_18442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.571+33_571+36del ENSP00000252444.6:n.571+33_571+36del
ENST00000559340.2:c.313+33_313+36del ENSP00000453696.2:n.313+33_313+36del
ENST00000560467.2:c.313+33_313+36del ENSP00000453513.2:n.313+33_313+36del
ENST00000558518.6:c.313+33_313+36del MANE Select ENSP00000454071.1:n.313+33_313+36del
ENST00000252444.9:c.567+33_567+36del
ENST00000455727.6:c.313+33_313+36del ENSP00000397829.2:n.313+33_313+36del
ENST00000535915.5:c.191-2401_191-2398del ENSP00000440520.1:n.191-2401_191-2398del
ENST00000545707.5:c.313+33_313+36del ENSP00000437639.1:n.313+33_313+36del
ENST00000557933.5:c.313+33_313+36del ENSP00000453557.1:n.313+33_313+36del
ENST00000557958.1:n.432_435del
ENST00000558013.5:c.313+33_313+36del ENSP00000453346.1:n.313+33_313+36del
ENST00000558518.5:c.313+33_313+36del ENSP00000454071.1:n.313+33_313+36del
NM_000527.4:c.313+33_313+36del , LRG_274t1:c.313+33_313+36del NP_000518.1:n.313+33_313+36del
NM_001195798.1:c.313+33_313+36del NP_001182727.1:n.313+33_313+36del
NM_001195799.1:c.191-2401_191-2398del NP_001182728.1:n.191-2401_191-2398del
NM_001195800.1:c.313+33_313+36del NP_001182729.1:n.313+33_313+36del
NM_001195803.1:c.313+33_313+36del NP_001182732.1:n.313+33_313+36del
XM_011528010.1:c.313+33_313+36del XP_011526312.1:n.313+33_313+36del
XM_011528011.1:c.313+33_313+36del XP_011526313.1:n.313+33_313+36del
XR_244074.2:n.463+33_463+36del
XM_011528010.2:c.313+33_313+36del XP_011526312.1:n.313+33_313+36del
XR_001753685.2:n.430+33_430+36del
XR_001753686.2:n.430+33_430+36del
NM_000527.5:c.313+33_313+36del MANE Select NP_000518.1:n.313+33_313+36del
NM_001195798.2:c.313+33_313+36del NP_001182727.1:n.313+33_313+36del
NM_001195799.2:c.191-2401_191-2398del NP_001182728.1:n.191-2401_191-2398del
NM_001195800.2:c.313+33_313+36del NP_001182729.1:n.313+33_313+36del
NM_001195803.2:c.313+33_313+36del NP_001182732.1:n.313+33_313+36del
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