Linked Data
ClinVar Variation Id:
304827
ClinVar RCV Id:
RCV000303999
dbSNP Id:
rs147363340
gnomAD v2:
11-46878707-TAC-T
gnomAD v3:
11-46857156-TAC-T
gnomAD v4:
11-46857156-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46857157_46857158del , CM000673.2:g.46857157_46857158del | GRCh38 |
| NC_000011.9:g.46878708_46878709del , CM000673.1:g.46878708_46878709del | GRCh37 |
| NC_000011.8:g.46835284_46835285del | NCBI36 |
| NG_021394.1:g.66465_66466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.*1825_*1826del (LRP4) MANE Select | ENSP00000367888.1:n.*1825_*1826del | |
| ENST00000378623.5:c.*1825_*1826del (LRP4) | ENSP00000367888.1:n.*1825_*1826del | |
| ENST00000529604.1:n.2486_2487del (LRP4) | ||
| NM_002334.3:c.*1825_*1826del (LRP4) | NP_002325.2:n.*1825_*1826del | |
| NR_038909.1:n.197+10440_197+10441del (LRP4-AS1) | ||
| XM_011520102.1:c.*1825_*1826del (LRP4) | XP_011518404.1:n.*1825_*1826del | |
| XM_011520103.1:c.*1825_*1826del (LRP4) | XP_011518405.1:n.*1825_*1826del | |
| XM_011520104.1:c.*1825_*1826del (LRP4) | XP_011518406.1:n.*1825_*1826del | |
| XM_011520103.2:c.*1825_*1826del (LRP4) | XP_011518405.1:n.*1825_*1826del | |
| XM_011520104.2:c.*1825_*1826del (LRP4) | XP_011518406.1:n.*1825_*1826del | |
| NM_002334.4:c.*1825_*1826del (LRP4) MANE Select | NP_002325.2:n.*1825_*1826del |