Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429912_68429916del , CM000663.2:g.68429912_68429916del | GRCh38 |
| NC_000001.10:g.68895595_68895599del , CM000663.1:g.68895595_68895599del | GRCh37 |
| NC_000001.9:g.68668183_68668187del | NCBI36 |
| NG_008472.1:g.25044_25048del | |
| NG_008472.2:g.25044_25048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1462_1466del MANE Select | ENSP00000262340.5:p.Ser488GlyfsTer23 | |
| ENST00000262340.5:c.1462_1466del | ENSP00000262340.5:p.Ser488GlyfsTer23 | |
| NM_000329.2:c.1462_1466del | NP_000320.1:p.Ser488GlyfsTer23 | |
| XM_017002027.1:c.1186_1190del | XP_016857516.1:p.Ser396GlyfsTer23 | |
| NM_000329.3:c.1462_1466del MANE Select | NP_000320.1:p.Ser488GlyfsTer23 |