Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132088del , CM000663.2:g.16132088del | GRCh38 |
| NC_000001.10:g.16458583del , CM000663.1:g.16458583del | GRCh37 |
| NC_000001.9:g.16331170del | NCBI36 |
| NG_021396.1:g.29003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2304del MANE Select | ENSP00000351209.5:p.Glu769ArgfsTer? | |
| ENST00000358432.7:c.2304del | ENSP00000351209.5:p.Glu769ArgfsTer? | |
| NM_004431.3:c.2304del | NP_004422.2:p.Glu769ArgfsTer? | |
| NM_001329090.1:c.2142del | NP_001316019.1:p.Glu715ArgfsTer? | |
| NM_004431.4:c.2304del | NP_004422.2:p.Glu769ArgfsTer? | |
| NM_004431.5:c.2304del MANE Select | NP_004422.2:p.Glu769ArgfsTer? | |
| NM_001329090.2:c.2142del | NP_001316019.1:p.Glu715ArgfsTer? |