Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447412del , CM000668.2:g.121447412del | GRCh38 |
| NC_000006.11:g.121768558del , CM000668.1:g.121768558del | GRCh37 |
| NC_000006.10:g.121810257del | NCBI36 |
| NG_008308.1:g.16814del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.565del MANE Select | NP_000156.1:p.Arg189GlufsTer? |
| ENST00000282561.4:c.565del MANE Select | ENSP00000282561.3:p.Arg189GlufsTer? |
| NM_000165.4:c.565del | NP_000156.1:p.Arg189GlufsTer? |
| ENST00000282561.3:c.565del | ENSP00000282561.3:p.Arg189GlufsTer? |
| ENST00000647564.1:c.565del | ENSP00000497565.1:p.Arg189GlufsTer? |
| ENST00000649003.1:c.565del | ENSP00000497283.1:p.Arg189GlufsTer? |
| ENST00000650427.1:c.565del | ENSP00000497367.1:p.Arg189GlufsTer? |