Linked Data
gnomAD v4:
19-7526885-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526887del , CM000681.2:g.7526887del | GRCh38 |
| NC_000019.9:g.7591773del , CM000681.1:g.7591773del | GRCh37 |
| NC_000019.8:g.7497773del | NCBI36 |
| NG_015806.1:g.9278del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.532del MANE Select | ENSP00000264079.5:p.Ala178ProfsTer? | |
| ENST00000264079.10:c.532del | ENSP00000264079.5:p.Ala178ProfsTer? | |
| ENST00000394321.9:n.612del | ||
| ENST00000596008.1:n.494del | ||
| ENST00000598406.1:n.353del | ||
| ENST00000601003.1:c.532del | ENSP00000469074.1:p.Ala178ProfsTer? | |
| NM_020533.2:c.532del | NP_065394.1:p.Ala178ProfsTer? | |
| NM_020533.3:c.532del MANE Select | NP_065394.1:p.Ala178ProfsTer? |