Canonical Allele Identifier: CA10584782
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251050
ClinVar RCV Id: RCV000237719

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100347_11100348dup , CM000681.2:g.11100347_11100348dup GRCh38
NC_000019.9:g.11211023_11211024dup , CM000681.1:g.11211023_11211024dup GRCh37
NC_000019.8:g.11072023_11072024dup NCBI36
NG_009060.1:g.15967_15968dup , LRG_274:g.15967_15968dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.448+2_448+3dup
ENST00000559340.2:c.190+2_190+3dup
ENST00000560467.2:c.190+2_190+3dup
ENST00000558518.6:c.190+2_190+3dup
ENST00000252444.9:c.444+2_444+3dup
ENST00000455727.6:c.190+2_190+3dup
ENST00000535915.5:c.190+2_190+3dup
ENST00000545707.5:c.190+2_190+3dup
ENST00000557933.5:c.190+2_190+3dup
ENST00000557958.1:n.276+2_276+3dup
ENST00000558013.5:c.190+2_190+3dup
ENST00000558518.5:c.190+2_190+3dup
ENST00000560502.5:n.278_279dup
NM_000527.4:c.190+2_190+3dup , LRG_274t1:c.190+2_190+3dup
NM_001195798.1:c.190+2_190+3dup
NM_001195799.1:c.190+2_190+3dup
NM_001195800.1:c.190+2_190+3dup
NM_001195803.1:c.190+2_190+3dup
XM_011528010.1:c.190+2_190+3dup
XM_011528011.1:c.190+2_190+3dup
XR_244074.2:n.340+2_340+3dup
XM_011528010.2:c.190+2_190+3dup
XR_001753685.2:n.307+2_307+3dup
XR_001753686.2:n.307+2_307+3dup
NM_000527.5:c.190+2_190+3dup
NM_001195798.2:c.190+2_190+3dup
NM_001195799.2:c.190+2_190+3dup
NM_001195800.2:c.190+2_190+3dup
NM_001195803.2:c.190+2_190+3dup