Linked Data
gnomAD v4:
19-7527440-AGAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527442_7527445del , CM000681.2:g.7527442_7527445del | GRCh38 |
| NC_000019.9:g.7592328_7592331del , CM000681.1:g.7592328_7592331del | GRCh37 |
| NC_000019.8:g.7498328_7498331del | NCBI36 |
| NG_015806.1:g.9833_9836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.572-78_572-75del MANE Select | ENSP00000264079.5:n.572-78_572-75del | |
| ENST00000264079.10:c.572-78_572-75del | ENSP00000264079.5:n.572-78_572-75del | |
| ENST00000394321.9:n.652-78_652-75del | ||
| ENST00000598406.1:n.393-78_393-75del | ||
| ENST00000601003.1:c.572-422_572-419del | ENSP00000469074.1:n.572-422_572-419del | |
| NM_020533.2:c.572-78_572-75del | NP_065394.1:n.572-78_572-75del | |
| NM_020533.3:c.572-78_572-75del MANE Select | NP_065394.1:n.572-78_572-75del |