Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086197_8086207del , CM000679.2:g.8086197_8086207del | GRCh38 |
| NC_000017.10:g.7989515_7989525del , CM000679.1:g.7989515_7989525del | GRCh37 |
| NC_000017.9:g.7930240_7930250del | NCBI36 |
| NG_007099.1:g.6499_6509del | |
| NG_007099.2:g.6512_6522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.163_173del MANE Select | ENSP00000497784.1:p.Val55SerfsTer5 | |
| ENST00000319144.4:c.163_173del | ENSP00000315167.4:p.Val55SerfsTer5 | |
| NM_001139.2:c.163_173del | NP_001130.1:p.Val55SerfsTer5 | |
| NM_001139.3:c.163_173del MANE Select | NP_001130.1:p.Val55SerfsTer5 |