Linked Data
gnomAD v4:
14-49621693-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621696del , CM000676.2:g.49621696del | GRCh38 |
| NC_000014.8:g.50088414del , CM000676.1:g.50088414del | GRCh37 |
| NC_000014.7:g.49158164del | NCBI36 |
| NG_008920.1:g.5926del | |
| NG_033054.1:g.3938del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.428del MANE Select | ENSP00000307423.2:p.Gly143GlufsTer21 | |
| ENST00000305386.3:c.428del | ENSP00000307423.2:p.Gly143GlufsTer21 | |
| NM_002408.3:c.428del | NP_002399.1:p.Gly143GlufsTer21 | |
| NM_002408.4:c.428del MANE Select | NP_002399.1:p.Gly143GlufsTer21 |