Linked Data
gnomAD v4:
10-122461601-C-CTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461602_122461604dup , CM000672.2:g.122461602_122461604dup | GRCh38 |
| NC_000010.10:g.124221118_124221120dup , CM000672.1:g.124221118_124221120dup | GRCh37 |
| NC_000010.9:g.124211108_124211110dup | NCBI36 |
| NG_011554.1:g.5078_5080dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-51_-49dup MANE Select | ENSP00000357980.3:n.-51_-49dup | |
| ENST00000648167.1:c.154+2893_154+2895dup | ENSP00000498033.1:n.154+2893_154+2895dup | |
| ENST00000368984.7:c.-51_-49dup | ENSP00000357980.3:n.-51_-49dup | |
| NM_002775.4:c.-51_-49dup | NP_002766.1:n.-51_-49dup | |
| NM_002775.5:c.-51_-49dup MANE Select | NP_002766.1:n.-51_-49dup |