Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586735_41586738delinsCGGA , CM000679.2:g.41586735_41586738delinsCGGA | GRCh38 |
| NC_000017.10:g.39742987_39742990delinsCGGA , CM000679.1:g.39742987_39742990delinsCGGA | GRCh37 |
| NC_000017.9:g.36996513_36996516delinsCGGA | NCBI36 |
| NG_008624.1:g.5158_5161delinsTCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.97_100delinsTCCG MANE Select | ENSP00000167586.6:p.Ser33= | |
| ENST00000167586.6:c.97_100delinsTCCG | ENSP00000167586.6:p.Ser33= | |
| NM_000526.4:c.97_100delinsTCCG | NP_000517.2:p.Ser33= | |
| NM_000526.5:c.97_100delinsTCCG MANE Select | NP_000517.3:p.Ser33= |