Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007976_72007983del , CM000672.2:g.72007976_72007983del | GRCh38 |
| NC_000010.10:g.73767734_73767741del , CM000672.1:g.73767734_73767741del | GRCh37 |
| NC_000010.9:g.73437740_73437747del | NCBI36 |
| NG_012635.1:g.48615_48622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.945_952del MANE Select | ENSP00000362207.4:p.Gly316Ter | |
| ENST00000373115.4:c.945_952del | ENSP00000362207.4:p.Gly316Ter | |
| NM_004273.4:c.945_952del | NP_004264.2:p.Gly316Ter | |
| XM_006718075.2:c.945_952del | XP_006718138.1:p.Gly316Ter | |
| XM_011540369.1:c.945_952del | XP_011538671.1:p.Gly316Ter | |
| XM_006718075.4:c.945_952del | XP_006718138.1:p.Gly316Ter | |
| XM_011540369.2:c.945_952del | XP_011538671.1:p.Gly316Ter | |
| NM_004273.5:c.945_952del MANE Select | NP_004264.2:p.Gly316Ter |