Canonical Allele Identifier: CA2322780238
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129512_11129529delinsGTGCTCCTCGTCTTCCTT , CM000681.2:g.11129512_11129529delinsGTGCTCCTCGTCTTCCTT GRCh38
NC_000019.9:g.11240188_11240205delinsGTGCTCCTCGTCTTCCTT , CM000681.1:g.11240188_11240205delinsGTGCTCCTCGTCTTCCTT GRCh37
NC_000019.8:g.11101188_11101205delinsGTGCTCCTCGTCTTCCTT NCBI36
NG_009060.1:g.45132_45149delinsGTGCTCCTCGTCTTCCTT , LRG_274:g.45132_45149delinsGTGCTCCTCGTCTTCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-1_2664delinsGTGCTCCTCGTCTTCCTT
ENST00000559340.2:c.*459-1_*475delinsGTGCTCCTCGTCTTCCTT
ENST00000560467.2:c.2270-1_2286delinsGTGCTCCTCGTCTTCCTT
ENST00000558518.6:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
ENST00000252444.9:c.2644-1_2660delinsGTGCTCCTCGTCTTCCTT
ENST00000455727.6:c.1886-1_1902delinsGTGCTCCTCGTCTTCCTT
ENST00000535915.5:c.2267-1_2283delinsGTGCTCCTCGTCTTCCTT
ENST00000545707.5:c.1856-1_1872delinsGTGCTCCTCGTCTTCCTT
ENST00000557933.5:c.2451_2468delinsGTGCTCCTCGTCTTCCTT ENSP00000453557.1:p.Gln817=
ENST00000558013.5:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
ENST00000558518.5:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
ENST00000560628.1:n.108+1858_108+1875delinsGTGCTCCTCGTCTTCCTT
NM_000527.4:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT , LRG_274t1:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
NM_001195798.1:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
NM_001195799.1:c.2267-1_2283delinsGTGCTCCTCGTCTTCCTT
NM_001195800.1:c.1886-1_1902delinsGTGCTCCTCGTCTTCCTT
NM_001195803.1:c.1856-1_1872delinsGTGCTCCTCGTCTTCCTT
XM_011528010.1:c.2312-1_2328delinsGTGCTCCTCGTCTTCCTT
XM_011528011.1:c.2009-1_2025delinsGTGCTCCTCGTCTTCCTT
XR_244074.2:n.2400-1_2416delinsGTGCTCCTCGTCTTCCTT
XM_011528010.2:c.2312-1_2328delinsGTGCTCCTCGTCTTCCTT
XR_001753685.2:n.2724-1_2740delinsGTGCTCCTCGTCTTCCTT
XR_001753686.2:n.2367-1_2383delinsGTGCTCCTCGTCTTCCTT
NM_000527.5:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
NM_001195798.2:c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT
NM_001195799.2:c.2267-1_2283delinsGTGCTCCTCGTCTTCCTT
NM_001195800.2:c.1886-1_1902delinsGTGCTCCTCGTCTTCCTT
NM_001195803.2:c.1856-1_1872delinsGTGCTCCTCGTCTTCCTT