Canonical Allele Identifier: CA2830773974
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102785_11102801del , CM000681.2:g.11102785_11102801del GRCh38
NC_000019.9:g.11213461_11213477del , CM000681.1:g.11213461_11213477del GRCh37
NC_000019.8:g.11074461_11074477del NCBI36
NG_009060.1:g.18405_18421del , LRG_274:g.18405_18421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.570_571+15del
ENST00000559340.2:c.312_313+15del
ENST00000560467.2:c.312_313+15del
ENST00000558518.6:c.312_313+15del
ENST00000252444.9:c.566_567+15del
ENST00000455727.6:c.312_313+15del
ENST00000535915.5:c.191-2435_191-2419del ENSP00000440520.1:n.191-2435_191-2419del
ENST00000545707.5:c.312_313+15del
ENST00000557933.5:c.312_313+15del
ENST00000557958.1:n.398_414del
ENST00000558013.5:c.312_313+15del
ENST00000558518.5:c.312_313+15del
NM_000527.4:c.312_313+15del , LRG_274t1:c.312_313+15del
NM_001195798.1:c.312_313+15del
NM_001195799.1:c.191-2435_191-2419del NP_001182728.1:n.191-2435_191-2419del
NM_001195800.1:c.312_313+15del
NM_001195803.1:c.312_313+15del
XM_011528010.1:c.312_313+15del
XM_011528011.1:c.312_313+15del
XR_244074.2:n.462_463+15del
XM_011528010.2:c.312_313+15del
XR_001753685.2:n.429_430+15del
XR_001753686.2:n.429_430+15del
NM_000527.5:c.312_313+15del
NM_001195798.2:c.312_313+15del
NM_001195799.2:c.191-2435_191-2419del NP_001182728.1:n.191-2435_191-2419del
NM_001195800.2:c.312_313+15del
NM_001195803.2:c.312_313+15del
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