Linked Data
gnomAD v4:
19-7525043-GGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525046_7525048del , CM000681.2:g.7525046_7525048del | GRCh38 |
| NC_000019.9:g.7589932_7589934del , CM000681.1:g.7589932_7589934del | GRCh37 |
| NC_000019.8:g.7495932_7495934del | NCBI36 |
| NG_015806.1:g.7437_7439del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.117_119del MANE Select | ENSP00000264079.5:p.Glu39del | |
| ENST00000264079.10:c.117_119del | ENSP00000264079.5:p.Glu39del | |
| ENST00000394321.9:n.197_199del | ||
| ENST00000596390.1:n.233_235del | ||
| ENST00000601003.1:c.117_119del | ENSP00000469074.1:p.Glu39del | |
| NM_020533.2:c.117_119del | NP_065394.1:p.Glu39del | |
| NM_020533.3:c.117_119del MANE Select | NP_065394.1:p.Glu39del |