Linked Data
dbSNP Id:
rs1882861908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621796_49621797del , CM000676.2:g.49621796_49621797del | GRCh38 |
| NC_000014.8:g.50088514_50088515del , CM000676.1:g.50088514_50088515del | GRCh37 |
| NC_000014.7:g.49158264_49158265del | NCBI36 |
| NG_008920.1:g.6026_6027del | |
| NG_033054.1:g.3836_3837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.528_529del MANE Select | ENSP00000307423.2:p.Phe177SerfsTer9 | |
| ENST00000305386.3:c.528_529del | ENSP00000307423.2:p.Phe177SerfsTer9 | |
| NM_002408.3:c.528_529del | NP_002399.1:p.Phe177SerfsTer9 | |
| NM_002408.4:c.528_529del MANE Select | NP_002399.1:p.Phe177SerfsTer9 |