Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818982_129818984del , CM000671.2:g.129818982_129818984del | GRCh38 |
| NC_000009.11:g.132581261_132581263del , CM000671.1:g.132581261_132581263del | GRCh37 |
| NC_000009.10:g.131621082_131621084del | NCBI36 |
| NG_008049.1:g.10181_10183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445-62_445-60del MANE Select | ENSP00000345719.4:n.445-62_445-60del | |
| ENST00000651202.1:c.541-62_541-60del | ENSP00000498222.1:n.541-62_541-60del | |
| ENST00000351698.4:c.445-62_445-60del | ENSP00000345719.4:n.445-62_445-60del | |
| ENST00000473604.2:n.555-62_555-60del | ||
| NM_000113.2:c.445-62_445-60del | NP_000104.1:n.445-62_445-60del | |
| XR_929731.1:n.605-62_605-60del | ||
| XR_929731.3:n.473-62_473-60del | ||
| NM_000113.3:c.445-62_445-60del MANE Select | NP_000104.1:n.445-62_445-60del |