Linked Data
gnomAD v4:
14-49621645-ACCGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621648_49621651del , CM000676.2:g.49621648_49621651del | GRCh38 |
| NC_000014.8:g.50088366_50088369del , CM000676.1:g.50088366_50088369del | GRCh37 |
| NC_000014.7:g.49158116_49158119del | NCBI36 |
| NG_008920.1:g.5878_5881del | |
| NG_033054.1:g.3983_3986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.380_383del MANE Select | ENSP00000307423.2:p.Arg127ProfsTer? | |
| ENST00000305386.3:c.380_383del | ENSP00000307423.2:p.Arg127ProfsTer? | |
| NM_002408.3:c.380_383del | NP_002399.1:p.Arg127ProfsTer? | |
| NM_002408.4:c.380_383del MANE Select | NP_002399.1:p.Arg127ProfsTer? |