Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528235_7528236insA , CM000681.2:g.7528235_7528236insA | GRCh38 |
| NC_000019.9:g.7593121_7593122insA , CM000681.1:g.7593121_7593122insA | GRCh37 |
| NC_000019.8:g.7499121_7499122insA | NCBI36 |
| NG_015806.1:g.10626_10627insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.855_856insA MANE Select | ENSP00000264079.5:p.His286ThrfsTer17 | |
| ENST00000264079.10:c.855_856insA | ENSP00000264079.5:p.His286ThrfsTer17 | |
| ENST00000394321.9:n.1170_1171insA | ||
| NM_020533.2:c.855_856insA | NP_065394.1:p.His286ThrfsTer17 | |
| NM_020533.3:c.855_856insA MANE Select | NP_065394.1:p.His286ThrfsTer17 |