Linked Data
gnomAD v4:
2-44942228-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942230_44942231del , CM000664.2:g.44942230_44942231del | GRCh38 |
| NC_000002.11:g.45169369_45169370del , CM000664.1:g.45169369_45169370del | GRCh37 |
| NC_000002.10:g.45022873_45022874del | NCBI36 |
| NG_016222.1:g.5333_5334del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.126_127del MANE Select | ENSP00000260653.3:p.Gly43ArgfsTer? | |
| ENST00000260653.4:c.126_127del | ENSP00000260653.3:p.Gly43ArgfsTer? | |
| NM_005413.3:c.126_127del | NP_005404.1:p.Gly43ArgfsTer? | |
| XM_011533042.1:c.126_127del | XP_011531344.1:p.Gly43ArgfsTer? | |
| NM_005413.4:c.126_127del MANE Select | NP_005404.1:p.Gly43ArgfsTer? |