Linked Data
gnomAD v4:
10-122461659-ATCCCGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461660_122461665del , CM000672.2:g.122461660_122461665del | GRCh38 |
| NC_000010.10:g.124221176_124221181del , CM000672.1:g.124221176_124221181del | GRCh37 |
| NC_000010.9:g.124211166_124211171del | NCBI36 |
| NG_011554.1:g.5136_5141del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.8_13del MANE Select | ENSP00000357980.3:p.Ile3_Arg5delinsSer | |
| ENST00000648167.1:c.154+2951_154+2956del | ENSP00000498033.1:n.154+2951_154+2956del | |
| ENST00000368984.7:c.8_13del | ENSP00000357980.3:p.Ile3_Arg5delinsSer | |
| NM_002775.4:c.8_13del | NP_002766.1:p.Ile3_Arg5delinsSer | |
| NM_002775.5:c.8_13del MANE Select | NP_002766.1:p.Ile3_Arg5delinsSer |