Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527459_7527460del , CM000681.2:g.7527459_7527460del | GRCh38 |
| NC_000019.9:g.7592345_7592346del , CM000681.1:g.7592345_7592346del | GRCh37 |
| NC_000019.8:g.7498345_7498346del | NCBI36 |
| NG_015806.1:g.9850_9851del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.572-61_572-60del MANE Select | ENSP00000264079.5:n.572-61_572-60del | |
| ENST00000264079.10:c.572-61_572-60del | ENSP00000264079.5:n.572-61_572-60del | |
| ENST00000394321.9:n.652-61_652-60del | ||
| ENST00000598406.1:n.393-61_393-60del | ||
| ENST00000601003.1:c.572-405_572-404del | ENSP00000469074.1:n.572-405_572-404del | |
| NM_020533.2:c.572-61_572-60del | NP_065394.1:n.572-61_572-60del | |
| NM_020533.3:c.572-61_572-60del MANE Select | NP_065394.1:n.572-61_572-60del |