Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304700del , CM000685.2:g.30304700del | GRCh38 |
| NC_000023.10:g.30322817del , CM000685.1:g.30322817del | GRCh37 |
| NC_000023.9:g.30232738del | NCBI36 |
| NG_009814.1:g.9679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1292del MANE Select | ENSP00000368253.4:p.Ser431IlefsTer6 | |
| ENST00000378970.4:c.1292del | ENSP00000368253.4:p.Ser431IlefsTer6 | |
| NM_000475.4:c.1292del | NP_000466.2:p.Ser431IlefsTer6 | |
| NM_000475.5:c.1292del MANE Select | NP_000466.2:p.Ser431IlefsTer6 |