Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302025_24302026del , CM000668.2:g.24302025_24302026del | GRCh38 |
| NC_000006.11:g.24302253_24302254del , CM000668.1:g.24302253_24302254del | GRCh37 |
| NC_000006.10:g.24410232_24410233del | NCBI36 |
| NG_012829.1:g.61027_61028del | |
| NG_012829.2:g.86267_86268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.367_368del MANE Select | ENSP00000367715.3:p.Ser123GlnfsTer9 | |
| ENST00000378454.7:c.367_368del | ENSP00000367715.3:p.Ser123GlnfsTer9 | |
| NM_001195610.1:c.367_368del | NP_001182539.1:p.Ser123GlnfsTer9 | |
| NM_016356.4:c.367_368del | NP_057440.2:p.Ser123GlnfsTer9 | |
| NM_016356.5:c.367_368del MANE Select | NP_057440.2:p.Ser123GlnfsTer9 | |
| NM_001195610.2:c.367_368del | NP_001182539.1:p.Ser123GlnfsTer9 |