Canonical Allele Identifier: CA2695228326
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129509_11129516del , CM000681.2:g.11129509_11129516del GRCh38
NC_000019.9:g.11240185_11240192del , CM000681.1:g.11240185_11240192del GRCh37
NC_000019.8:g.11101185_11101192del NCBI36
NG_009060.1:g.45129_45136del , LRG_274:g.45129_45136del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-4_2651del
ENST00000559340.2:c.*459-4_*462del
ENST00000560467.2:c.2270-4_2273del
ENST00000558518.6:c.2390-4_2393del
ENST00000252444.9:c.2644-4_2647del
ENST00000455727.6:c.1886-4_1889del
ENST00000535915.5:c.2267-4_2270del
ENST00000545707.5:c.1856-4_1859del
ENST00000557933.5:c.2448_2455del ENSP00000453557.1:p.Gln817LeufsTer?
ENST00000558013.5:c.2390-4_2393del
ENST00000558518.5:c.2390-4_2393del
ENST00000560628.1:n.108+1855_108+1862del
NM_000527.4:c.2390-4_2393del , LRG_274t1:c.2390-4_2393del
NM_001195798.1:c.2390-4_2393del
NM_001195799.1:c.2267-4_2270del
NM_001195800.1:c.1886-4_1889del
NM_001195803.1:c.1856-4_1859del
XM_011528010.1:c.2312-4_2315del
XM_011528011.1:c.2009-4_2012del
XR_244074.2:n.2400-4_2403del
XM_011528010.2:c.2312-4_2315del
XR_001753685.2:n.2724-4_2727del
XR_001753686.2:n.2367-4_2370del
NM_000527.5:c.2390-4_2393del
NM_001195798.2:c.2390-4_2393del
NM_001195799.2:c.2267-4_2270del
NM_001195800.2:c.1886-4_1889del
NM_001195803.2:c.1856-4_1859del