Canonical Allele Identifier: CA10576332
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226390
dbSNP Id: rs875989941

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123325del , CM000681.2:g.11123325del GRCh38
NC_000019.9:g.11234001del , CM000681.1:g.11234001del GRCh37
NC_000019.8:g.11095001del NCBI36
NG_009060.1:g.38945del , LRG_274:g.38945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2550del ENSP00000252444.6:p.Ile850MetfsTer2
ENST00000559340.2:c.*361del ENSP00000453696.2:n.*361del
ENST00000560467.2:c.2172del ENSP00000453513.2:p.Ile724MetfsTer2
ENST00000558518.6:c.2292del MANE Select ENSP00000454071.1:p.Ile764MetfsTer2
ENST00000252444.9:c.2546del
ENST00000455727.6:c.1788del ENSP00000397829.2:p.Ile596MetfsTer2
ENST00000535915.5:c.2169del ENSP00000440520.1:p.Ile723MetfsTer2
ENST00000545707.5:c.1758del ENSP00000437639.1:p.Ile586MetfsTer2
ENST00000557933.5:c.2292del ENSP00000453557.1:p.Ile764MetfsTer2
ENST00000558013.5:c.2292del ENSP00000453346.1:p.Ile764MetfsTer2
ENST00000558518.5:c.2292del ENSP00000454071.1:p.Ile764MetfsTer2
NM_000527.4:c.2292del , LRG_274t1:c.2292del NP_000518.1:p.Ile764MetfsTer2
NM_001195798.1:c.2292del NP_001182727.1:p.Ile764MetfsTer2
NM_001195799.1:c.2169del NP_001182728.1:p.Ile723MetfsTer2
NM_001195800.1:c.1788del NP_001182729.1:p.Ile596MetfsTer2
NM_001195803.1:c.1758del NP_001182732.1:p.Ile586MetfsTer2
XM_011528010.1:c.2292del XP_011526312.1:p.Ile764MetfsTer2
XM_011528011.1:c.1911del XP_011526313.1:p.Ile637MetfsTer2
XR_244074.2:n.2302del
XM_011528010.2:c.2292del XP_011526312.1:p.Ile764MetfsTer2
XR_001753685.2:n.2626del
XR_001753686.2:n.2269del
NM_000527.5:c.2292del MANE Select NP_000518.1:p.Ile764MetfsTer2
NM_001195798.2:c.2292del NP_001182727.1:p.Ile764MetfsTer2
NM_001195799.2:c.2169del NP_001182728.1:p.Ile723MetfsTer2
NM_001195800.2:c.1788del NP_001182729.1:p.Ile596MetfsTer2
NM_001195803.2:c.1758del NP_001182732.1:p.Ile586MetfsTer2