Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848994_35848995del , CM000681.2:g.35848994_35848995del | GRCh38 |
| NC_000019.9:g.36339896_36339897del , CM000681.1:g.36339896_36339897del | GRCh37 |
| NC_000019.8:g.41031736_41031737del | NCBI36 |
| NG_013356.2:g.25293_25294del , LRG_693:g.25293_25294del | |
| NG_051206.1:g.2360_2361del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.993_994del MANE Select | ENSP00000368190.4:p.Ile332HisfsTer9 | |
| ENST00000353632.6:c.993_994del | ENSP00000343634.5:p.Ile332HisfsTer9 | |
| ENST00000378910.9:c.993_994del | ENSP00000368190.4:p.Ile332HisfsTer9 | |
| NM_004646.3:c.993_994del , LRG_693t1:c.993_994del | NP_004637.1:p.Ile332HisfsTer9 | |
| NM_004646.4:c.993_994del MANE Select | NP_004637.1:p.Ile332HisfsTer9 |