Linked Data
dbSNP Id:
rs770422666
ExAC:
1:55464875 AC / A
gnomAD v2:
1-55464875-AC-A
gnomAD v4:
1-54999202-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999204del , CM000663.2:g.54999204del | GRCh38 |
| NC_000001.10:g.55464877del , CM000663.1:g.55464877del | GRCh37 |
| NC_000001.9:g.55237465del | NCBI36 |
| NG_008965.1:g.5261del | |
| NG_008965.2:g.5272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.18del MANE Select | ENSP00000498282.1:p.Phe7SerfsTer20 | |
| ENST00000371265.4:c.18del | ENSP00000360312.4:p.Phe7SerfsTer20 | |
| NM_057176.2:c.18del | NP_476517.1:p.Phe7SerfsTer20 | |
| NM_057176.3:c.18del MANE Select | NP_476517.1:p.Phe7SerfsTer20 |