Linked Data
dbSNP Id:
rs1414422031
gnomAD v2:
17-41053205-TC-T
gnomAD v3:
17-42901188-TC-T
gnomAD v4:
17-42901188-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901192del , CM000679.2:g.42901192del | GRCh38 |
| NC_000017.10:g.41053209del , CM000679.1:g.41053209del | GRCh37 |
| NC_000017.9:g.38306735del | NCBI36 |
| NG_011808.1:g.5395del , LRG_147:g.5395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.230+86del MANE Select | ENSP00000253801.1:n.230+86del | |
| ENST00000253801.6:c.230+86del | ENSP00000253801.1:n.230+86del | |
| ENST00000585489.1:c.230+86del | ENSP00000466202.1:n.230+86del | |
| ENST00000588481.1:n.295+86del | ||
| ENST00000592383.5:c.230+86del | ENSP00000465958.1:n.230+86del | |
| NM_000151.3:c.230+86del | NP_000142.2:n.230+86del | |
| NM_001270397.1:c.230+86del | NP_001257326.1:n.230+86del | |
| NM_000151.4:c.230+86del MANE Select | NP_000142.2:n.230+86del | |
| NM_001270397.2:c.230+86del | NP_001257326.1:n.230+86del |