Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568666del , CM000678.2:g.86568666del | GRCh38 |
| NC_000016.9:g.86602272del , CM000678.1:g.86602272del | GRCh37 |
| NC_000016.8:g.85159773del | NCBI36 |
| NG_012025.1:g.6416del | |
| NG_012025.2:g.6838del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005251.3:c.1331del MANE Select | NP_005242.1:p.Gln444ArgfsTer28 |
| ENST00000649859.1:c.1331del MANE Select | ENSP00000497759.1:p.Gln444ArgfsTer28 |
| NM_005251.2:c.1331del | NP_005242.1:p.Gln444ArgfsTer28 |
| ENST00000320354.5:c.1331del | ENSP00000326371.4:p.Gln444ArgfsTer28 |