Linked Data
dbSNP Id:
rs777089361
ExAC:
2:16085682 TTCC / T
gnomAD v2:
2-16085682-TTCC-T
gnomAD v3:
2-15945560-TTCC-T
gnomAD v4:
2-15945560-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945567_15945569del , CM000664.2:g.15945567_15945569del | GRCh38 |
| NC_000002.11:g.16085689_16085691del , CM000664.1:g.16085689_16085691del | GRCh37 |
| NC_000002.10:g.16003140_16003142del | NCBI36 |
| NG_007457.1:g.10007_10009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.214_216del | ||
| ENST00000281043.4:c.865_867del MANE Select | ENSP00000281043.3:p.Ser289del | |
| ENST00000638417.1:c.232_234del | ENSP00000491476.1:p.Ser78del | |
| ENST00000281043.3:c.865_867del | ENSP00000281043.3:p.Ser289del | |
| NM_001293228.1:c.865_867del | NP_001280157.1:p.Ser289del | |
| NM_001293231.1:c.232_234del | NP_001280160.1:p.Ser78del | |
| NM_001293233.1:c.*800_*802del | NP_001280162.1:n.*800_*802del | |
| NM_005378.5:c.865_867del | NP_005369.2:p.Ser289del | |
| NM_005378.6:c.865_867del MANE Select | NP_005369.2:p.Ser289del | |
| NM_001293228.2:c.865_867del | NP_001280157.1:p.Ser289del | |
| NM_001293231.2:c.232_234del | NP_001280160.1:p.Ser78del | |
| NM_001293233.2:c.*800_*802del | NP_001280162.1:n.*800_*802del |