Canonical Allele Identifier: CA2695202622
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129637_11129680delinsGG , CM000681.2:g.11129637_11129680delinsGG GRCh38
NC_000019.9:g.11240313_11240356delinsGG , CM000681.1:g.11240313_11240356delinsGG GRCh37
NC_000019.8:g.11101313_11101356delinsGG NCBI36
NG_009060.1:g.45257_45300delinsGG , LRG_274:g.45257_45300delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2772_2805+10delinsGG
ENST00000559340.2:c.*583_*616+10delinsGG
ENST00000560467.2:c.2394_2427+10delinsGG
ENST00000558518.6:c.2514_2547+10delinsGG
ENST00000252444.9:c.2768_2801+10delinsGG
ENST00000455727.6:c.2010_2043+10delinsGG
ENST00000535915.5:c.2391_2424+10delinsGG
ENST00000545707.5:c.1980_2013+10delinsGG
ENST00000557933.5:c.2576_2609+10delinsGG
ENST00000558013.5:c.2514_2547+10delinsGG
ENST00000558518.5:c.2514_2547+10delinsGG
ENST00000560628.1:n.108+1983_108+2026delinsGG
NM_000527.4:c.2514_2547+10delinsGG , LRG_274t1:c.2514_2547+10delinsGG
NM_001195798.1:c.2514_2547+10delinsGG
NM_001195799.1:c.2391_2424+10delinsGG
NM_001195800.1:c.2010_2043+10delinsGG
NM_001195803.1:c.1980_2013+10delinsGG
XM_011528010.1:c.2436_2469+10delinsGG
XM_011528011.1:c.2133_2166+10delinsGG
XM_011528010.2:c.2436_2469+10delinsGG
XR_001753685.2:n.2848_2881+10delinsGG
XR_001753686.2:n.2491_2524+10delinsGG
NM_000527.5:c.2514_2547+10delinsGG
NM_001195798.2:c.2514_2547+10delinsGG
NM_001195799.2:c.2391_2424+10delinsGG
NM_001195800.2:c.2010_2043+10delinsGG
NM_001195803.2:c.1980_2013+10delinsGG