Canonical Allele Identifier: CA2739276499
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2839825
ClinVar RCV Id: RCV003742040

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120088_11120096del , CM000681.2:g.11120088_11120096del GRCh38
NC_000019.9:g.11230764_11230772del , CM000681.1:g.11230764_11230772del GRCh37
NC_000019.8:g.11091764_11091772del NCBI36
NG_009060.1:g.35708_35716del , LRG_274:g.35708_35716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-4_2108del
ENST00000559340.2:c.1706-4_1710del
ENST00000560467.2:c.1726-4_1730del
ENST00000558518.6:c.1846-4_1850del
ENST00000252444.9:c.2100-4_2104del
ENST00000455727.6:c.1342-4_1346del
ENST00000535915.5:c.1723-4_1727del
ENST00000545707.5:c.1465-4_1469del
ENST00000557933.5:c.1846-4_1850del
ENST00000558013.5:c.1846-4_1850del
ENST00000558518.5:c.1846-4_1850del
ENST00000559340.1:c.427-4_431del
NM_000527.4:c.1846-4_1850del , LRG_274t1:c.1846-4_1850del
NM_001195798.1:c.1846-4_1850del
NM_001195799.1:c.1723-4_1727del
NM_001195800.1:c.1342-4_1346del
NM_001195803.1:c.1465-4_1469del
XM_011528010.1:c.1846-4_1850del
XM_011528011.1:c.1465-4_1469del
XR_244074.2:n.1856-4_1860del
XM_011528010.2:c.1846-4_1850del
XR_001753685.2:n.1963-4_1967del
XR_001753686.2:n.1823-4_1827del
NM_000527.5:c.1846-4_1850del
NM_001195798.2:c.1846-4_1850del
NM_001195799.2:c.1723-4_1727del
NM_001195800.2:c.1342-4_1346del
NM_001195803.2:c.1465-4_1469del