Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114444_140114446del , CM000667.2:g.140114444_140114446del | GRCh38 |
| NC_000005.9:g.139494029_139494031del , CM000667.1:g.139494029_139494031del | GRCh37 |
| NC_000005.8:g.139474213_139474215del | NCBI36 |
| NG_041813.1:g.5322_5324del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005859.5:c.263_265del MANE Select | NP_005850.1:p.Ile88_Ala89delinsThr |
| ENST00000331327.5:c.263_265del MANE Select | ENSP00000332706.3:p.Ile88_Ala89delinsThr |
| NM_005859.4:c.263_265del | NP_005850.1:p.Ile88_Ala89delinsThr |
| ENST00000331327.4:c.263_265del | ENSP00000332706.3:p.Ile88_Ala89delinsThr |
| ENST00000505703.2:c.263_265del | ENSP00000498560.1:p.Ile88_Ala89delinsThr |
| ENST00000651386.1:c.263_265del | ENSP00000499133.1:p.Ile88_Ala89delinsThr |