Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075054_38075057del , CM000664.2:g.38075054_38075057del | GRCh38 |
| NC_000002.11:g.38302197_38302200del , CM000664.1:g.38302197_38302200del | GRCh37 |
| NC_000002.10:g.38155701_38155704del | NCBI36 |
| NG_008386.2:g.6046_6049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.333_336del | ENSP00000478839.2:p.Ser112ProfsTer? | |
| ENST00000610745.5:c.333_336del MANE Select | ENSP00000478561.1:p.Ser112ProfsTer? | |
| ENST00000490576.1:c.333_336del | ENSP00000478839.1:p.Ser112ProfsTer? | |
| ENST00000494864.1:c.-70-3746_-70-3743del | ENSP00000479876.1:n.-70-3746_-70-3743del | |
| ENST00000610745.4:c.333_336del | ENSP00000478561.1:p.Ser112ProfsTer? | |
| ENST00000613082.1:n.376-648_376-645del | ||
| ENST00000614273.1:c.333_336del | ENSP00000483678.1:p.Ser112ProfsTer? | |
| NM_000104.3:c.333_336del | NP_000095.2:p.Ser112ProfsTer? | |
| NM_000104.4:c.333_336del MANE Select | NP_000095.2:p.Ser112ProfsTer? |