Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586365_41586367delinsGCA , CM000679.2:g.41586365_41586367delinsGCA | GRCh38 |
| NC_000017.10:g.39742617_39742619delinsGCA , CM000679.1:g.39742617_39742619delinsGCA | GRCh37 |
| NC_000017.9:g.36996143_36996145delinsGCA | NCBI36 |
| NG_008624.1:g.5529_5531delinsTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.468_470delinsTGC MANE Select | ENSP00000167586.6:p.Pro156= | |
| ENST00000167586.6:c.468_470delinsTGC | ENSP00000167586.6:p.Pro156= | |
| NM_000526.4:c.468_470delinsTGC | NP_000517.2:p.Pro156= | |
| NM_000526.5:c.468_470delinsTGC MANE Select | NP_000517.3:p.Pro156= |