Canonical Allele Identifier: CA2580096613
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1783294
ClinVar RCV Id: RCV002421603

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120201dup , CM000681.2:g.11120201dup GRCh38
NC_000019.9:g.11230877dup , CM000681.1:g.11230877dup GRCh37
NC_000019.8:g.11091877dup NCBI36
NG_009060.1:g.35821dup , LRG_274:g.35821dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2213dup ENSP00000252444.6:p.Met738IlefsTer17
ENST00000559340.2:c.*24dup ENSP00000453696.2:n.*24dup
ENST00000560467.2:c.1835dup ENSP00000453513.2:p.Met612IlefsTer17
ENST00000558518.6:c.1955dup MANE Select ENSP00000454071.1:p.Met652IlefsTer17
ENST00000252444.9:c.2209dup
ENST00000455727.6:c.1451dup ENSP00000397829.2:p.Met484IlefsTer17
ENST00000535915.5:c.1832dup ENSP00000440520.1:p.Met611IlefsTer17
ENST00000545707.5:c.1574dup ENSP00000437639.1:p.Met525IlefsTer14
ENST00000557933.5:c.1955dup ENSP00000453557.1:p.Met652IlefsTer17
ENST00000558013.5:c.1955dup ENSP00000453346.1:p.Met652IlefsTer17
ENST00000558518.5:c.1955dup ENSP00000454071.1:p.Met652IlefsTer17
ENST00000559340.1:c.536dup
NM_000527.4:c.1955dup , LRG_274t1:c.1955dup NP_000518.1:p.Met652IlefsTer17
NM_001195798.1:c.1955dup NP_001182727.1:p.Met652IlefsTer17
NM_001195799.1:c.1832dup NP_001182728.1:p.Met611IlefsTer17
NM_001195800.1:c.1451dup NP_001182729.1:p.Met484IlefsTer17
NM_001195803.1:c.1574dup NP_001182732.1:p.Met525IlefsTer14
XM_011528010.1:c.1955dup XP_011526312.1:p.Met652IlefsTer17
XM_011528011.1:c.1574dup XP_011526313.1:p.Met525IlefsTer17
XR_244074.2:n.1965dup
XM_011528010.2:c.1955dup XP_011526312.1:p.Met652IlefsTer17
XR_001753685.2:n.2072dup
XR_001753686.2:n.1932dup
NM_000527.5:c.1955dup MANE Select NP_000518.1:p.Met652IlefsTer17
NM_001195798.2:c.1955dup NP_001182727.1:p.Met652IlefsTer17
NM_001195799.2:c.1832dup NP_001182728.1:p.Met611IlefsTer17
NM_001195800.2:c.1451dup NP_001182729.1:p.Met484IlefsTer17
NM_001195803.2:c.1574dup NP_001182732.1:p.Met525IlefsTer14