Linked Data
gnomAD v4:
10-122461699-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461700_122461701del , CM000672.2:g.122461700_122461701del | GRCh38 |
| NC_000010.10:g.124221216_124221217del , CM000672.1:g.124221216_124221217del | GRCh37 |
| NC_000010.9:g.124211206_124211207del | NCBI36 |
| NG_011554.1:g.5176_5177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.48_49del MANE Select | ENSP00000357980.3:p.Ala17GlyfsTer? | |
| ENST00000648167.1:c.154+2991_154+2992del | ENSP00000498033.1:n.154+2991_154+2992del | |
| ENST00000368984.7:c.48_49del | ENSP00000357980.3:p.Ala17GlyfsTer? | |
| NM_002775.4:c.48_49del | NP_002766.1:p.Ala17GlyfsTer? | |
| NM_002775.5:c.48_49del MANE Select | NP_002766.1:p.Ala17GlyfsTer? |