Canonical Allele Identifier: CA2576625895
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1520258
ClinVar RCV Id: RCV002038600

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100347_11100348del , CM000681.2:g.11100347_11100348del GRCh38
NC_000019.9:g.11211023_11211024del , CM000681.1:g.11211023_11211024del GRCh37
NC_000019.8:g.11072023_11072024del NCBI36
NG_009060.1:g.15967_15968del , LRG_274:g.15967_15968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.448+2_448+3del
ENST00000559340.2:c.190+2_190+3del
ENST00000560467.2:c.190+2_190+3del
ENST00000558518.6:c.190+2_190+3del
ENST00000252444.9:c.444+2_444+3del
ENST00000455727.6:c.190+2_190+3del
ENST00000535915.5:c.190+2_190+3del
ENST00000545707.5:c.190+2_190+3del
ENST00000557933.5:c.190+2_190+3del
ENST00000557958.1:n.276+2_276+3del
ENST00000558013.5:c.190+2_190+3del
ENST00000558518.5:c.190+2_190+3del
ENST00000560502.5:n.278_279del
NM_000527.4:c.190+2_190+3del , LRG_274t1:c.190+2_190+3del
NM_001195798.1:c.190+2_190+3del
NM_001195799.1:c.190+2_190+3del
NM_001195800.1:c.190+2_190+3del
NM_001195803.1:c.190+2_190+3del
XM_011528010.1:c.190+2_190+3del
XM_011528011.1:c.190+2_190+3del
XR_244074.2:n.340+2_340+3del
XM_011528010.2:c.190+2_190+3del
XR_001753685.2:n.307+2_307+3del
XR_001753686.2:n.307+2_307+3del
NM_000527.5:c.190+2_190+3del
NM_001195798.2:c.190+2_190+3del
NM_001195799.2:c.190+2_190+3del
NM_001195800.2:c.190+2_190+3del
NM_001195803.2:c.190+2_190+3del