Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586407_41586408delinsAG , CM000679.2:g.41586407_41586408delinsAG | GRCh38 |
| NC_000017.10:g.39742659_39742660delinsAG , CM000679.1:g.39742659_39742660delinsAG | GRCh37 |
| NC_000017.9:g.36996185_36996186delinsAG | NCBI36 |
| NG_008624.1:g.5488_5489delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.427_428delinsCT MANE Select | ENSP00000167586.6:p.Leu143= | |
| ENST00000167586.6:c.427_428delinsCT | ENSP00000167586.6:p.Leu143= | |
| NM_000526.4:c.427_428delinsCT | NP_000517.2:p.Leu143= | |
| NM_000526.5:c.427_428delinsCT MANE Select | NP_000517.3:p.Leu143= |