Linked Data
gnomAD v4:
10-47325225-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325230_47325231del , CM000672.2:g.47325230_47325231del | GRCh38 |
| NC_000010.10:g.48414135_48414136del , CM000672.1:g.48414135_48414136del | GRCh37 |
| NC_000010.9:g.48034141_48034142del | NCBI36 |
| NG_033916.1:g.7741_7742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.736_737del MANE Select | ENSP00000463051.1:p.Pro246ArgfsTer14 | |
| ENST00000581492.2:c.736_737del | ENSP00000463051.1:p.Pro246ArgfsTer14 | |
| NM_016204.2:c.736_737del | NP_057288.1:p.Pro246ArgfsTer14 | |
| XM_006717761.2:c.736_737del | XP_006717824.1:p.Pro246ArgfsTer14 | |
| NM_016204.3:c.736_737del | NP_057288.1:p.Pro246ArgfsTer14 | |
| NM_016204.4:c.736_737del MANE Select | NP_057288.1:p.Pro246ArgfsTer14 |