Canonical Allele Identifier: CA10585711
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252150
ClinVar RCV Id: RCV000237567
dbSNP Id: rs1555807306

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120318_11120388del , CM000681.2:g.11120318_11120388del GRCh38
NC_000019.9:g.11230994_11231064del , CM000681.1:g.11230994_11231064del GRCh37
NC_000019.8:g.11091994_11092064del NCBI36
NG_009060.1:g.35938_36008del , LRG_274:g.35938_36008del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2246-52_2264del
ENST00000559340.2:c.*57-52_*75del
ENST00000560467.2:c.1868-52_1886del
ENST00000558518.6:c.1988-52_2006del
ENST00000252444.9:c.2242-52_2260del
ENST00000455727.6:c.1484-52_1502del
ENST00000535915.5:c.1865-52_1883del
ENST00000545707.5:c.1606+85_1606+155del ENSP00000437639.1:n.1606+85_1606+155del
ENST00000557933.5:c.1988-52_2006del
ENST00000558013.5:c.1988-52_2006del
ENST00000558518.5:c.1988-52_2006del
ENST00000559340.1:c.569-52_587del
NM_000527.4:c.1988-52_2006del , LRG_274t1:c.1988-52_2006del
NM_001195798.1:c.1988-52_2006del
NM_001195799.1:c.1865-52_1883del
NM_001195800.1:c.1484-52_1502del
NM_001195803.1:c.1606+85_1606+155del NP_001182732.1:n.1606+85_1606+155del
XM_011528010.1:c.1988-52_2006del
XM_011528011.1:c.1607-52_1625del
XR_244074.2:n.1998-52_2016del
XM_011528010.2:c.1988-52_2006del
XR_001753685.2:n.2105-52_2123del
XR_001753686.2:n.1965-52_1983del
NM_000527.5:c.1988-52_2006del
NM_001195798.2:c.1988-52_2006del
NM_001195799.2:c.1865-52_1883del
NM_001195800.2:c.1484-52_1502del
NM_001195803.2:c.1606+85_1606+155del NP_001182732.1:n.1606+85_1606+155del