Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093213_176093226del , CM000664.2:g.176093213_176093226del | GRCh38 |
| NC_000002.11:g.176957941_176957954del , CM000664.1:g.176957941_176957954del | GRCh37 |
| NC_000002.10:g.176666187_176666200del | NCBI36 |
| NG_008137.1:g.5410_5423del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000523.4:c.323_336del MANE Select | NP_000514.2:p.Pro108ArgfsTer? |
| ENST00000392539.4:c.323_336del MANE Select | ENSP00000376322.3:p.Pro108ArgfsTer? |
| NM_000523.3:c.323_336del | NP_000514.2:p.Pro108ArgfsTer? |
| ENST00000392539.3:c.323_336del | ENSP00000376322.3:p.Pro108ArgfsTer? |
| XM_011511068.1:c.725-1267_725-1254del | XP_011509370.1:n.725-1267_725-1254del |
| XM_011511068.2:c.725-1267_725-1254del | XP_011509370.1:n.725-1267_725-1254del |