Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63066015del , CM000670.2:g.63066015del | GRCh38 |
| NC_000008.10:g.63978574del , CM000670.1:g.63978574del | GRCh37 |
| NC_000008.9:g.64141128del | NCBI36 |
| NG_016123.1:g.25039del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.441del MANE Select | ENSP00000260116.4:p.Glu148LysfsTer28 | |
| ENST00000260116.4:c.441del | ENSP00000260116.4:p.Glu148LysfsTer28 | |
| ENST00000521138.1:n.233-17412del | ||
| NM_000370.3:c.441del MANE Select | NP_000361.1:p.Glu148LysfsTer28 | |
| XM_006716468.2:c.205-1699del | XP_006716531.1:n.205-1699del | |
| XM_006716468.4:c.205-1699del | XP_006716531.1:n.205-1699del |