Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283518_47283524del , CM000679.2:g.47283518_47283524del | GRCh38 |
| NC_000017.10:g.45360884_45360890del , CM000679.1:g.45360884_45360890del | GRCh37 |
| NC_000017.9:g.42715883_42715889del | NCBI36 |
| NG_008332.2:g.34677_34683del , LRG_481:g.34677_34683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.330_336del | ENSP00000513002.1:p.Ser110ArgfsTer? | |
| ENST00000559488.7:c.330_336del MANE Select | ENSP00000452786.2:p.Ser110ArgfsTer? | |
| ENST00000559488.5:c.330_336del | ENSP00000452786.1:p.Ser110ArgfsTer? | |
| ENST00000560629.1:c.295_301del | ||
| ENST00000571680.1:c.330_336del | ENSP00000461626.1:p.Ser110ArgfsTer? | |
| NM_000212.2:c.330_336del , LRG_481t1:c.330_336del | NP_000203.2:p.Ser110ArgfsTer? | |
| NM_000212.3:c.330_336del MANE Select | NP_000203.2:p.Ser110ArgfsTer? |