Linked Data
gnomAD v4:
5-148827412-TCACGAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827415_148827421del , CM000667.2:g.148827415_148827421del | GRCh38 |
| NC_000005.9:g.148206978_148206984del , CM000667.1:g.148206978_148206984del | GRCh37 |
| NC_000005.8:g.148187171_148187177del | NCBI36 |
| NG_016421.1:g.5823_5829del | |
| NG_016421.2:g.5823_5829del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.584_590del MANE Select | ENSP00000305372.4:p.Thr195LysfsTer17 | |
| ENST00000305988.5:c.584_590del | ENSP00000305372.4:p.Thr195LysfsTer17 | |
| NM_000024.5:c.584_590del | NP_000015.1:p.Thr195LysfsTer17 | |
| NM_000024.6:c.584_590del MANE Select | NP_000015.2:p.Thr195LysfsTer17 |