Canonical Allele Identifier: CA2322771817
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113449_11113455delinsGGTGAGC , CM000681.2:g.11113449_11113455delinsGGTGAGC GRCh38
NC_000019.9:g.11224125_11224131delinsGGTGAGC , CM000681.1:g.11224125_11224131delinsGGTGAGC GRCh37
NC_000019.8:g.11085125_11085131delinsGGTGAGC NCBI36
NG_009060.1:g.29069_29075delinsGGTGAGC , LRG_274:g.29069_29075delinsGGTGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1616_1616+6delinsGGTGAGC
ENST00000559340.2:c.1358_1358+6delinsGGTGAGC
ENST00000560467.2:c.1238_1238+6delinsGGTGAGC
ENST00000558518.6:c.1358_1358+6delinsGGTGAGC
ENST00000252444.9:c.1612_1612+6delinsGGTGAGC
ENST00000455727.6:c.854_854+6delinsGGTGAGC
ENST00000535915.5:c.1235_1235+6delinsGGTGAGC
ENST00000545707.5:c.977_977+6delinsGGTGAGC
ENST00000557933.5:c.1358_1358+6delinsGGTGAGC
ENST00000558013.5:c.1358_1358+6delinsGGTGAGC
ENST00000558518.5:c.1358_1358+6delinsGGTGAGC
ENST00000559340.1:c.79_79+6delinsGGTGAGC
ENST00000560173.1:n.357_363delinsGGTGAGC
ENST00000560467.1:c.838_838+6delinsGGTGAGC
NM_000527.4:c.1358_1358+6delinsGGTGAGC , LRG_274t1:c.1358_1358+6delinsGGTGAGC
NM_001195798.1:c.1358_1358+6delinsGGTGAGC
NM_001195799.1:c.1235_1235+6delinsGGTGAGC
NM_001195800.1:c.854_854+6delinsGGTGAGC
NM_001195803.1:c.977_977+6delinsGGTGAGC
XM_011528010.1:c.1358_1358+6delinsGGTGAGC
XM_011528011.1:c.977_977+6delinsGGTGAGC
XR_244074.2:n.1508_1508+6delinsGGTGAGC
XM_011528010.2:c.1358_1358+6delinsGGTGAGC
XR_001753685.2:n.1475_1475+6delinsGGTGAGC
XR_001753686.2:n.1475_1475+6delinsGGTGAGC
NM_000527.5:c.1358_1358+6delinsGGTGAGC
NM_001195798.2:c.1358_1358+6delinsGGTGAGC
NM_001195799.2:c.1235_1235+6delinsGGTGAGC
NM_001195800.2:c.854_854+6delinsGGTGAGC
NM_001195803.2:c.977_977+6delinsGGTGAGC