Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48979621del , CM000674.2:g.48979621del | GRCh38 |
| NC_000012.11:g.49373404del , CM000674.1:g.49373404del | GRCh37 |
| NC_000012.10:g.47659671del | NCBI36 |
| NG_033141.1:g.6169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.258del MANE Select | ENSP00000293549.3:p.Gln87ArgfsTer? | |
| ENST00000293549.3:c.258del | ENSP00000293549.3:p.Gln87ArgfsTer? | |
| ENST00000613114.4:c.258del | ENSP00000481240.1:p.Gln87ArgfsTer? | |
| NM_005430.3:c.258del | NP_005421.1:p.Gln87ArgfsTer? | |
| NM_005430.4:c.258del MANE Select | NP_005421.1:p.Gln87ArgfsTer? |