Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161423725del , CM000664.2:g.161423725del | GRCh38 |
| NC_000002.11:g.162280236del , CM000664.1:g.162280236del | GRCh37 |
| NC_000002.10:g.161988482del | NCBI36 |
| NG_046904.1:g.12617del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1547del MANE Select | NP_006584.1:p.Tyr516SerfsTer6 |
| ENST00000389554.8:c.1547del MANE Select | ENSP00000374205.3:p.Tyr516SerfsTer6 |
| NM_006593.2:c.1547del | NP_006584.1:p.Tyr516SerfsTer6 |
| NM_006593.3:c.1547del | NP_006584.1:p.Tyr516SerfsTer6 |
| ENST00000389554.7:c.1547del | ENSP00000374205.3:p.Tyr516SerfsTer6 |
| ENST00000410035.1:c.686del | ENSP00000387023.1:p.Tyr229SerfsTer6 |
| ENST00000411412.5:c.647del | ENSP00000393934.1:p.Tyr216SerfsTer6 |
| ENST00000463544.1:n.7025del |