Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352575del , CM000671.2:g.133352575del | GRCh38 |
| NC_000009.10:g.135209251del | NCBI36 |
| NG_008477.1:g.8932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.622del MANE Select | ENSP00000361042.3:p.Arg208GlyfsTer2 | |
| ENST00000371974.7:c.622del | ENSP00000361042.3:p.Arg208GlyfsTer2 | |
| ENST00000437995.1:n.532del | ||
| ENST00000495952.5:n.612del | ||
| ENST00000615505.4:c.295del | ENSP00000482067.1:p.Arg99GlyfsTer2 | |
| NM_001280787.1:c.295del | NP_001267716.1:p.Arg99GlyfsTer2 | |
| NM_003172.3:c.622del | NP_003163.1:p.Arg208GlyfsTer2 | |
| XM_011518942.1:c.295del | XP_011517244.1:p.Arg99GlyfsTer2 | |
| NM_003172.4:c.622del MANE Select | NP_003163.1:p.Arg208GlyfsTer2 |