Linked Data
dbSNP Id:
rs778508332
ExAC:
17:17696927 ACTC / A
gnomAD v2:
17-17696927-ACTC-A
gnomAD v4:
17-17793613-ACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793620_17793622del , CM000679.2:g.17793620_17793622del | GRCh38 |
| NC_000017.10:g.17696934_17696936del , CM000679.1:g.17696934_17696936del | GRCh37 |
| NC_000017.9:g.17637659_17637661del | NCBI36 |
| NG_007101.2:g.117148_117150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.672_674del MANE Select | ENSP00000323074.4:p.Ser225del | |
| ENST00000640861.1:c.617-10_617-8del | ENSP00000491773.1:n.617-10_617-8del | |
| ENST00000353383.5:c.672_674del | ENSP00000323074.4:p.Ser225del | |
| ENST00000395774.1:c.672_674del | ENSP00000379120.1:p.Ser225del | |
| NM_030665.3:c.672_674del | NP_109590.3:p.Ser225del | |
| XM_017024025.1:c.672_674del | XP_016879514.1:p.Ser225del | |
| XM_017024026.1:c.672_674del | XP_016879515.1:p.Ser225del | |
| XM_017024027.1:c.672_674del | XP_016879516.1:p.Ser225del | |
| XM_017024028.2:c.672_674del | XP_016879517.1:p.Ser225del | |
| NM_030665.4:c.672_674del MANE Select | NP_109590.3:p.Ser225del |