Linked Data
gnomAD v4:
1-192811960-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811962_192811964del , CM000663.2:g.192811962_192811964del | GRCh38 |
| NC_000001.10:g.192781092_192781094del , CM000663.1:g.192781092_192781094del | GRCh37 |
| NC_000001.9:g.191047715_191047717del | NCBI36 |
| NG_012800.1:g.7924_7926del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*366_*368del MANE Select | ENSP00000235382.5:n.*366_*368del | |
| ENST00000235382.6:c.*366_*368del | ENSP00000235382.5:n.*366_*368del | |
| NM_002923.3:c.*366_*368del | NP_002914.1:n.*366_*368del | |
| NM_002923.4:c.*366_*368del MANE Select | NP_002914.1:n.*366_*368del |