Linked Data
ClinVar Variation Id:
21062
dbSNP Id:
rs80356479
ExAC:
17:41052969 TC / T
gnomAD v2:
17-41052969-TC-T
gnomAD v3:
17-42900952-TC-T
gnomAD v4:
17-42900952-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900955del , CM000679.2:g.42900955del | GRCh38 |
| NC_000017.10:g.41052972del , CM000679.1:g.41052972del | GRCh37 |
| NC_000017.9:g.38306498del | NCBI36 |
| NG_011808.1:g.5158del , LRG_147:g.5158del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.79del MANE Select | ENSP00000253801.1:p.Gln27ArgfsTer9 | |
| ENST00000253801.6:c.79del | ENSP00000253801.1:p.Gln27ArgfsTer9 | |
| ENST00000585489.1:c.79del | ENSP00000466202.1:p.Gln27ArgfsTer9 | |
| ENST00000588481.1:n.144del | ||
| ENST00000592383.5:c.79del | ENSP00000465958.1:p.Gln27ArgfsTer9 | |
| NM_000151.3:c.79del | NP_000142.2:p.Gln27ArgfsTer9 | |
| NM_001270397.1:c.79del | NP_001257326.1:p.Gln27ArgfsTer9 | |
| NM_000151.4:c.79del MANE Select | NP_000142.2:p.Gln27ArgfsTer9 | |
| NM_001270397.2:c.79del | NP_001257326.1:p.Gln27ArgfsTer9 |