Linked Data
gnomAD v4:
19-7526665-AGTTGGGCGGGCAGGTGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526667_7526684del , CM000681.2:g.7526667_7526684del | GRCh38 |
| NC_000019.9:g.7591553_7591570del , CM000681.1:g.7591553_7591570del | GRCh37 |
| NC_000019.8:g.7497553_7497570del | NCBI36 |
| NG_015806.1:g.9058_9075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.405+61_406-77del MANE Select | ENSP00000264079.5:n.405+61_406-77del | |
| ENST00000264079.10:c.405+61_406-77del | ENSP00000264079.5:n.405+61_406-77del | |
| ENST00000394321.9:n.485+61_486-77del | ||
| ENST00000596008.1:n.367+61_368-77del | ||
| ENST00000598406.1:n.226+61_227-77del | ||
| ENST00000601003.1:c.405+61_406-77del | ENSP00000469074.1:n.405+61_406-77del | |
| NM_020533.2:c.405+61_406-77del | NP_065394.1:n.405+61_406-77del | |
| NM_020533.3:c.405+61_406-77del MANE Select | NP_065394.1:n.405+61_406-77del |