Canonical Allele Identifier: CA2573156034
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1683260
ClinVar RCV Id: RCV002238579
dbSNP Id: rs2147264768

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120091_11120093dup , CM000681.2:g.11120091_11120093dup GRCh38
NC_000019.9:g.11230767_11230769dup , CM000681.1:g.11230767_11230769dup GRCh37
NC_000019.8:g.11091767_11091769dup NCBI36
NG_009060.1:g.35711_35713dup , LRG_274:g.35711_35713dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-1_2105dup
ENST00000559340.2:c.1706-1_1707dup
ENST00000560467.2:c.1726-1_1727dup
ENST00000558518.6:c.1846-1_1847dup
ENST00000252444.9:c.2100-1_2101dup
ENST00000455727.6:c.1342-1_1343dup
ENST00000535915.5:c.1723-1_1724dup
ENST00000545707.5:c.1465-1_1466dup
ENST00000557933.5:c.1846-1_1847dup
ENST00000558013.5:c.1846-1_1847dup
ENST00000558518.5:c.1846-1_1847dup
ENST00000559340.1:c.427-1_428dup
NM_000527.4:c.1846-1_1847dup , LRG_274t1:c.1846-1_1847dup
NM_001195798.1:c.1846-1_1847dup
NM_001195799.1:c.1723-1_1724dup
NM_001195800.1:c.1342-1_1343dup
NM_001195803.1:c.1465-1_1466dup
XM_011528010.1:c.1846-1_1847dup
XM_011528011.1:c.1465-1_1466dup
XR_244074.2:n.1856-1_1857dup
XM_011528010.2:c.1846-1_1847dup
XR_001753685.2:n.1963-1_1964dup
XR_001753686.2:n.1823-1_1824dup
NM_000527.5:c.1846-1_1847dup
NM_001195798.2:c.1846-1_1847dup
NM_001195799.2:c.1723-1_1724dup
NM_001195800.2:c.1342-1_1343dup
NM_001195803.2:c.1465-1_1466dup