Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586407_41586411delinsAGGTC , CM000679.2:g.41586407_41586411delinsAGGTC | GRCh38 |
| NC_000017.10:g.39742659_39742663delinsAGGTC , CM000679.1:g.39742659_39742663delinsAGGTC | GRCh37 |
| NC_000017.9:g.36996185_36996189delinsAGGTC | NCBI36 |
| NG_008624.1:g.5485_5489delinsGACCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.424_428delinsGACCT MANE Select | ENSP00000167586.6:p.Asp142= | |
| ENST00000167586.6:c.424_428delinsGACCT | ENSP00000167586.6:p.Asp142= | |
| NM_000526.4:c.424_428delinsGACCT | NP_000517.2:p.Asp142= | |
| NM_000526.5:c.424_428delinsGACCT MANE Select | NP_000517.3:p.Asp142= |