Linked Data
dbSNP Id:
rs762844937
ExAC:
16:30764843 TCTC / T
gnomAD v2:
16-30764843-TCTC-T
gnomAD v4:
16-30753522-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753525_30753527del , CM000678.2:g.30753525_30753527del | GRCh38 |
| NC_000016.9:g.30764846_30764848del , CM000678.1:g.30764846_30764848del | GRCh37 |
| NC_000016.8:g.30672347_30672349del | NCBI36 |
| NG_016616.1:g.10227_10229del | |
| NG_016616.2:g.10227_10229del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.524_526del MANE Select | ENSP00000455607.1:p.Ser175del | |
| ENST00000328273.11:c.524_526del | ENSP00000329968.7:p.Ser175del | |
| ENST00000424889.7:c.524_526del | ENSP00000388571.3:p.Ser175del | |
| ENST00000561712.1:c.198_200del | ||
| ENST00000563588.5:c.524_526del | ENSP00000455607.1:p.Ser175del | |
| ENST00000563607.1:c.*196_*198del | ENSP00000454641.1:n.*196_*198del | |
| ENST00000563913.5:n.857_859del | ||
| ENST00000564838.5:n.898_900del | ||
| ENST00000565897.5:c.524_526del | ENSP00000457359.1:p.Ser175del | |
| ENST00000565924.5:c.524_526del | ENSP00000455091.1:p.Ser175del | |
| ENST00000569684.1:n.936_938del | ||
| NM_000294.2:c.524_526del | NP_000285.1:p.Ser175del | |
| NM_001172432.1:c.524_526del | NP_001165903.1:p.Ser175del | |
| NM_000294.3:c.524_526del MANE Select | NP_000285.1:p.Ser175del | |
| NM_001172432.2:c.524_526del | NP_001165903.1:p.Ser175del |