Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411935_38411937del , CM000685.2:g.38411935_38411937del | GRCh38 |
| NC_000023.10:g.38271188_38271190del , CM000685.1:g.38271188_38271190del | GRCh37 |
| NC_000023.9:g.38156132_38156134del | NCBI36 |
| NG_008471.1:g.64453_64455del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.941_943del MANE Select | ENSP00000039007.4:p.Glu314del | |
| ENST00000643344.1:c.*691_*693del | ENSP00000496606.1:n.*691_*693del | |
| ENST00000039007.4:c.941_943del | ENSP00000039007.4:p.Glu314del | |
| ENST00000465127.1:c.172-254186_172-254184del | ENSP00000417050.1:n.172-254186_172-254184del | |
| NM_000531.5:c.941_943del | NP_000522.3:p.Glu314del | |
| NM_000531.6:c.941_943del MANE Select | NP_000522.3:p.Glu314del |