Linked Data
gnomAD v4:
1-58782693-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782696_58782697del , CM000663.2:g.58782696_58782697del | GRCh38 |
| NC_000001.10:g.59248368_59248369del , CM000663.1:g.59248368_59248369del | GRCh37 |
| NC_000001.9:g.59020956_59020957del | NCBI36 |
| NG_047027.1:g.6419_6420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.442_443del | ENSP00000518166.1:p.Thr148AlafsTer? | |
| ENST00000371222.4:c.376_377del MANE Select | ENSP00000360266.2:p.Thr126AlafsTer? | |
| ENST00000678696.1:c.376_377del | ENSP00000503132.1:p.Thr126AlafsTer? | |
| ENST00000371222.3:c.376_377del | ENSP00000360266.2:p.Thr126AlafsTer? | |
| NM_002228.3:c.376_377del | NP_002219.1:p.Thr126AlafsTer? | |
| NM_002228.4:c.376_377del MANE Select | NP_002219.1:p.Thr126AlafsTer? |