Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192598_137192600del , CM000671.2:g.137192598_137192600del | GRCh38 |
| NC_000009.11:g.140087050_140087052del , CM000671.1:g.140087050_140087052del | GRCh37 |
| NC_000009.10:g.139206871_139206873del | NCBI36 |
| NG_027801.1:g.13137_13139del | |
| NG_027801.2:g.16619_16621del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1842_1844del MANE Select | ENSP00000387100.4:p.Glu615del | |
| ENST00000333046.8:c.1236_1238del | ENSP00000327617.4:p.Glu413del | |
| ENST00000409012.4:c.1842_1844del | ENSP00000387100.4:p.Glu615del | |
| ENST00000477345.1:n.2563_2565del | ||
| NM_001128228.2:c.1842_1844del | NP_001121700.2:p.Glu615del | |
| NM_001128228.3:c.1842_1844del MANE Select | NP_001121700.2:p.Glu615del |