Linked Data
dbSNP Id:
rs1571893944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432850_229432851del , CM000663.2:g.229432850_229432851del | GRCh38 |
| NC_000001.10:g.229568597_229568598del , CM000663.1:g.229568597_229568598del | GRCh37 |
| NC_000001.9:g.227635220_227635221del | NCBI36 |
| NG_006672.1:g.6246_6247del , LRG_429:g.6246_6247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.159_160del | ENSP00000355644.4:p.Ser54LeufsTer29 | |
| ENST00000684723.1:c.24_25del | ENSP00000508084.1:p.Ser9LeufsTer29 | |
| ENST00000366683.3:c.159_160del | ENSP00000355644.3:p.Ser54LeufsTer29 | |
| ENST00000366684.7:c.159_160del MANE Select | ENSP00000355645.3:p.Ser54LeufsTer29 | |
| NM_001100.3:c.159_160del , LRG_429t1:c.159_160del | NP_001091.1:p.Ser54LeufsTer29 | |
| NM_001100.4:c.159_160del MANE Select | NP_001091.1:p.Ser54LeufsTer29 |