Linked Data
gnomAD v4:
10-122461650-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461651_122461652del , CM000672.2:g.122461651_122461652del | GRCh38 |
| NC_000010.10:g.124221167_124221168del , CM000672.1:g.124221167_124221168del | GRCh37 |
| NC_000010.9:g.124211157_124211158del | NCBI36 |
| NG_011554.1:g.5127_5128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-2_-1del MANE Select | ENSP00000357980.3:n.-2_-1del | |
| ENST00000648167.1:c.154+2942_154+2943del | ENSP00000498033.1:n.154+2942_154+2943del | |
| ENST00000368984.7:c.-2_-1del | ENSP00000357980.3:n.-2_-1del | |
| NM_002775.4:c.-2_-1del | NP_002766.1:n.-2_-1del | |
| NM_002775.5:c.-2_-1del MANE Select | NP_002766.1:n.-2_-1del |