Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228098_66228102delinsAGCCC , CM000679.2:g.66228098_66228102delinsAGCCC | GRCh38 |
| NC_000017.10:g.64224216_64224220delinsAGCCC , CM000679.1:g.64224216_64224220delinsAGCCC | GRCh37 |
| NC_000017.9:g.61654678_61654682delinsAGCCC | NCBI36 |
| NG_012045.1:g.6337_6341delinsGGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.159_163delinsGGGCT MANE Select | ENSP00000205948.6:p.Pro53= | |
| ENST00000205948.10:c.159_163delinsGGGCT | ENSP00000205948.6:p.Pro53= | |
| ENST00000577982.1:c.159_163delinsGGGCT | ENSP00000464301.1:p.Pro53= | |
| ENST00000581797.5:c.-22_-18delinsGGGCT | ENSP00000463553.1:n.-22_-18delinsGGGCT | |
| NM_000042.2:c.159_163delinsGGGCT | NP_000033.2:p.Pro53= | |
| NM_000042.3:c.159_163delinsGGGCT MANE Select | NP_000033.2:p.Pro53= |