Linked Data
dbSNP Id:
rs1554849415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781858del , CM000672.2:g.94781858del | GRCh38 |
| NC_000010.10:g.96541615del , CM000672.1:g.96541615del | GRCh37 |
| NC_000010.9:g.96531605del | NCBI36 |
| NG_008384.2:g.24153del | |
| NG_008384.3:g.24178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.680del MANE Select | ENSP00000360372.3:p.Pro227ArgfsTer22 | |
| ENST00000645461.1:n.1733del | ||
| ENST00000371321.7:c.680del | ENSP00000360372.3:p.Pro227ArgfsTer22 | |
| ENST00000464755.1:c.1443del | ENSP00000483243.1:n.1443del | |
| NM_000769.2:c.680del | NP_000760.1:p.Pro227ArgfsTer22 | |
| NM_000769.4:c.680del MANE Select | NP_000760.1:p.Pro227ArgfsTer22 |