Linked Data
dbSNP Id:
rs1229266309
gnomAD v2:
19-11243111-AGGCCGGGCGCAGT-A
gnomAD v3:
19-11132435-AGGCCGGGCGCAGT-A
gnomAD v4:
19-11132435-AGGCCGGGCGCAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11132439_11132451del , CM000681.2:g.11132439_11132451del | GRCh38 |
| NC_000019.9:g.11243115_11243127del , CM000681.1:g.11243115_11243127del | GRCh37 |
| NC_000019.8:g.11104115_11104127del | NCBI36 |
| NG_009060.1:g.48059_48071del , LRG_274:g.48059_48071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.*1123_*1135del (LDLR) | ENSP00000252444.6:n.*1123_*1135del | |
| ENST00000559340.2:c.*1775_*1787del (LDLR) | ENSP00000453696.2:n.*1775_*1787del | |
| ENST00000560467.2:c.*1123_*1135del (LDLR) | ENSP00000453513.2:n.*1123_*1135del | |
| ENST00000558518.6:c.*1123_*1135del (LDLR) MANE Select | ENSP00000454071.1:n.*1123_*1135del | |
| ENST00000252444.9:c.3960_3972del (LDLR) | ||
| ENST00000560628.1:n.109-656_109-644del (LDLR) | ||
| ENST00000585567.5:c.540-841_540-829del (SPC24) | ENSP00000468818.1:n.540-841_540-829del | |
| NM_000527.4:c.*1123_*1135del , LRG_274t1:c.*1123_*1135del (LDLR) | NP_000518.1:n.*1123_*1135del | |
| NM_001195798.1:c.*1123_*1135del (LDLR) | NP_001182727.1:n.*1123_*1135del | |
| NM_001195799.1:c.*1123_*1135del (LDLR) | NP_001182728.1:n.*1123_*1135del | |
| NM_001195800.1:c.*1123_*1135del (LDLR) | NP_001182729.1:n.*1123_*1135del | |
| NM_001195803.1:c.*1123_*1135del (LDLR) | NP_001182732.1:n.*1123_*1135del | |
| XM_011528010.1:c.*1123_*1135del (LDLR) | XP_011526312.1:n.*1123_*1135del | |
| XM_011528011.1:c.*1123_*1135del (LDLR) | XP_011526313.1:n.*1123_*1135del | |
| XM_011528010.2:c.*1123_*1135del (LDLR) | XP_011526312.1:n.*1123_*1135del | |
| XR_001753685.2:n.4040_4052del (LDLR) | ||
| XR_001753686.2:n.3683_3695del (LDLR) | ||
| NM_000527.5:c.*1123_*1135del (LDLR) MANE Select | NP_000518.1:n.*1123_*1135del | |
| NM_001195798.2:c.*1123_*1135del (LDLR) | NP_001182727.1:n.*1123_*1135del | |
| NM_001195799.2:c.*1123_*1135del (LDLR) | NP_001182728.1:n.*1123_*1135del | |
| NM_001195800.2:c.*1123_*1135del (LDLR) | NP_001182729.1:n.*1123_*1135del | |
| NM_001195803.2:c.*1123_*1135del (LDLR) | NP_001182732.1:n.*1123_*1135del |