Linked Data
gnomAD v4:
13-27924605-CCCCGTTGCCGCCCGAGAGGGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924608_27924630del , CM000675.2:g.27924608_27924630del | GRCh38 |
| NC_000013.10:g.28498745_28498767del , CM000675.1:g.28498745_28498767del | GRCh37 |
| NC_000013.9:g.27396745_27396767del | NCBI36 |
| NG_008183.1:g.9578_9600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.759_781del MANE Select | ENSP00000370421.4:p.Val254AlafsTer5 | |
| ENST00000381033.4:c.759_781del | ENSP00000370421.4:p.Val254AlafsTer5 | |
| NM_000209.3:c.759_781del | NP_000200.1:p.Val254AlafsTer5 | |
| NM_000209.4:c.759_781del MANE Select | NP_000200.1:p.Val254AlafsTer5 |