Linked Data
gnomAD v4:
10-122461683-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461684_122461685del , CM000672.2:g.122461684_122461685del | GRCh38 |
| NC_000010.10:g.124221200_124221201del , CM000672.1:g.124221200_124221201del | GRCh37 |
| NC_000010.9:g.124211190_124211191del | NCBI36 |
| NG_011554.1:g.5160_5161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.32_33del MANE Select | ENSP00000357980.3:p.Leu11ProfsTer? | |
| ENST00000648167.1:c.154+2975_154+2976del | ENSP00000498033.1:n.154+2975_154+2976del | |
| ENST00000368984.7:c.32_33del | ENSP00000357980.3:p.Leu11ProfsTer? | |
| NM_002775.4:c.32_33del | NP_002766.1:p.Leu11ProfsTer? | |
| NM_002775.5:c.32_33del MANE Select | NP_002766.1:p.Leu11ProfsTer? |