Linked Data
gnomAD v4:
1-109264094-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264095_109264096dup , CM000663.2:g.109264095_109264096dup | GRCh38 |
| NC_000001.10:g.109806717_109806718dup , CM000663.1:g.109806717_109806718dup | GRCh37 |
| NC_000001.9:g.109608240_109608241dup | NCBI36 |
| NG_052669.1:g.19391_19392dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5019_5020dup MANE Select | ENSP00000271332.3:p.Met1674ArgfsTer3 | |
| ENST00000271332.3:c.5019_5020dup | ENSP00000271332.3:p.Met1674ArgfsTer3 | |
| NM_001408.2:c.5019_5020dup | NP_001399.1:p.Met1674ArgfsTer3 | |
| XM_005270580.3:c.5019_5020dup | XP_005270637.1:p.Met1674ArgfsTer3 | |
| NM_001408.3:c.5019_5020dup MANE Select | NP_001399.1:p.Met1674ArgfsTer3 |