Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408917del , CM000685.2:g.38408917del | GRCh38 |
| NC_000023.10:g.38268170del , CM000685.1:g.38268170del | GRCh37 |
| NC_000023.9:g.38153114del | NCBI36 |
| NG_008471.1:g.61435del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.759del MANE Select | ENSP00000039007.4:p.Ala254ArgfsTer7 | |
| ENST00000643344.1:c.*509del | ENSP00000496606.1:n.*509del | |
| ENST00000039007.4:c.759del | ENSP00000039007.4:p.Ala254ArgfsTer7 | |
| ENST00000465127.1:c.172-257204del | ENSP00000417050.1:n.172-257204del | |
| NM_000531.5:c.759del | NP_000522.3:p.Ala254ArgfsTer7 | |
| XM_017029556.1:c.759del | XP_016885045.1:p.Ala254ArgfsTer7 | |
| NM_000531.6:c.759del MANE Select | NP_000522.3:p.Ala254ArgfsTer7 |