Linked Data
gnomAD v4:
3-81648988-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648991del , CM000665.2:g.81648991del | GRCh38 |
| NC_000003.11:g.81698142del , CM000665.1:g.81698142del | GRCh37 |
| NC_000003.10:g.81780832del | NCBI36 |
| NG_011810.1:g.117812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.558del MANE Select | ENSP00000410833.2:p.Phe186LeufsTer12 | |
| ENST00000429644.6:c.558del | ENSP00000410833.2:p.Phe186LeufsTer12 | |
| ENST00000486920.1:n.554del | ||
| ENST00000489715.1:c.435del | ENSP00000419638.1:p.Phe145LeufsTer12 | |
| ENST00000498468.1:n.86del | ||
| NM_000158.3:c.558del | NP_000149.3:p.Phe186LeufsTer12 | |
| NM_000158.4:c.558del MANE Select | NP_000149.4:p.Phe186LeufsTer12 |