Canonical Allele Identifier: CA2695202621
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128008_11131316del , CM000681.2:g.11128008_11131316del GRCh38
NC_000019.9:g.11238684_11241992del , CM000681.1:g.11238684_11241992del GRCh37
NC_000019.8:g.11099684_11102992del NCBI36
NG_009060.1:g.43628_46936del , LRG_274:g.43628_46936del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2570_2841del
ENST00000559340.2:c.*381_*652del
ENST00000560467.2:c.2192_2463del
ENST00000558518.6:c.2312_2583del
ENST00000252444.9:c.2566_2837del
ENST00000455727.6:c.1808_2079del
ENST00000535915.5:c.2189_2460del
ENST00000545707.5:c.1778_2049del
ENST00000557933.5:c.2312_2645del
ENST00000558013.5:c.2312_2577del
ENST00000558518.5:c.2312_2583del
ENST00000560628.1:n.108+354_109-1779del
NM_000527.4:c.2312_2583del , LRG_274t1:c.2312_2583del
NM_001195798.1:c.2312_2577del
NM_001195799.1:c.2189_2460del
NM_001195800.1:c.1808_2079del
NM_001195803.1:c.1778_2049del
XM_011528010.1:c.2312-1505_2505del
XM_011528011.1:c.1931_2202del
XM_011528010.2:c.2312-1505_2505del
XR_001753685.2:n.2646_2917del
XR_001753686.2:n.2289_2560del
NM_000527.5:c.2312_2583del
NM_001195798.2:c.2312_2577del
NM_001195799.2:c.2189_2460del
NM_001195800.2:c.1808_2079del
NM_001195803.2:c.1778_2049del