Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21678420_21678421del , CM000678.2:g.21678420_21678421del | GRCh38 |
| NC_000016.9:g.21689741_21689742del , CM000678.1:g.21689741_21689742del | GRCh37 |
| NC_000016.8:g.21597242_21597243del | NCBI36 |
| NG_012973.1:g.4907_4908del | |
| NG_012973.2:g.19288_19289del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144672.4:c.-4-91_-4-90del MANE Select | NP_653273.3:n.-4-91_-4-90del |
| ENST00000646100.2:c.-4-91_-4-90del MANE Select | ENSP00000496564.2:n.-4-91_-4-90del |
| ENST00000647277.1:c.-4-91_-4-90del | ENSP00000495594.1:n.-4-91_-4-90del |
| XM_011545747.1:c.-4-91_-4-90del | XP_011544049.1:n.-4-91_-4-90del |