Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991810del , CM000679.2:g.49991810del | GRCh38 |
| NC_000017.10:g.48069174del , CM000679.1:g.48069174del | GRCh37 |
| NC_000017.9:g.45424173del | NCBI36 |
| NG_023063.1:g.8418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.574del MANE Select | ENSP00000389870.2:p.Glu192ArgfsTer? | |
| ENST00000512495.2:c.214del | ENSP00000449976.1:p.Glu72ArgfsTer? | |
| NM_005220.2:c.574del | NP_005211.1:p.Glu192ArgfsTer? | |
| XM_011524458.1:c.516+1593del | XP_011522760.1:n.516+1593del | |
| NM_005220.3:c.574del MANE Select | NP_005211.1:p.Glu192ArgfsTer? |