Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586535_41586547delinsAAAGCCACCACCC , CM000679.2:g.41586535_41586547delinsAAAGCCACCACCC | GRCh38 |
| NC_000017.10:g.39742787_39742799delinsAAAGCCACCACCC , CM000679.1:g.39742787_39742799delinsAAAGCCACCACCC | GRCh37 |
| NC_000017.9:g.36996313_36996325delinsAAAGCCACCACCC | NCBI36 |
| NG_008624.1:g.5349_5361delinsGGGTGGTGGCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.288_300delinsGGGTGGTGGCTTT MANE Select | ENSP00000167586.6:p.Leu96= | |
| ENST00000167586.6:c.288_300delinsGGGTGGTGGCTTT | ENSP00000167586.6:p.Leu96= | |
| NM_000526.4:c.288_300delinsGGGTGGTGGCTTT | NP_000517.2:p.Leu96= | |
| NM_000526.5:c.288_300delinsGGGTGGTGGCTTT MANE Select | NP_000517.3:p.Leu96= |