Canonical Allele Identifier: CA3268024579
Community Standard Title: NC_000019.10:g.11113750_11116125del
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113750_11116125del , CM000681.2:g.11113750_11116125del GRCh38
NC_000019.9:g.11224426_11226801del , CM000681.1:g.11224426_11226801del GRCh37
NC_000019.8:g.11085426_11087801del NCBI36
NG_009060.1:g.29370_31745del , LRG_274:g.29370_31745del

Transcript Alleles

HGVS Amino-acid Change
NM_000527.4:c.1574_1618del , LRG_274t1:c.1574_1618del
NM_000527.5:c.1574_1618del
NM_001195798.1:c.1574_1618del
NM_001195798.2:c.1574_1618del
NM_001195799.1:c.1451_1495del
NM_001195799.2:c.1451_1495del
NM_001195800.1:c.1070_1114del
NM_001195800.2:c.1070_1114del
NM_001195803.1:c.1193_1237del
NM_001195803.2:c.1193_1237del
ENST00000252444.10:c.1832_1876del
ENST00000252444.9:c.1828_1872del
ENST00000455727.6:c.1070_1114del
ENST00000535915.5:c.1451_1495del
ENST00000545707.5:c.1193_1237del
ENST00000557933.5:c.1574_1618del
ENST00000558013.5:c.1574_1618del
ENST00000558518.5:c.1574_1618del
ENST00000558518.6:c.1574_1618del
ENST00000559340.1:c.295_339del
ENST00000559340.2:c.1574_1618del
ENST00000560467.2:c.1454_1498del
XM_011528010.1:c.1574_1618del
XM_011528010.2:c.1574_1618del
XM_011528011.1:c.1193_1237del
XR_001753685.2:n.1691_1735del
XR_001753686.2:n.1691_1735del
XR_244074.2:n.1724_1768del