Linked Data
gnomAD v4:
14-49621773-TTCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621776_49621779del , CM000676.2:g.49621776_49621779del | GRCh38 |
| NC_000014.8:g.50088494_50088497del , CM000676.1:g.50088494_50088497del | GRCh37 |
| NC_000014.7:g.49158244_49158247del | NCBI36 |
| NG_008920.1:g.6006_6009del | |
| NG_033054.1:g.3855_3858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.508_511del MANE Select | ENSP00000307423.2:p.Cys170ArgfsTer? | |
| ENST00000305386.3:c.508_511del | ENSP00000307423.2:p.Cys170ArgfsTer? | |
| NM_002408.3:c.508_511del | NP_002399.1:p.Cys170ArgfsTer? | |
| NM_002408.4:c.508_511del MANE Select | NP_002399.1:p.Cys170ArgfsTer? |