Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159969298_159969304del , CM000668.2:g.159969298_159969304del | GRCh38 |
| NC_000006.11:g.160390330_160390336del , CM000668.1:g.160390330_160390336del | GRCh37 |
| NC_000006.10:g.160310320_160310326del | NCBI36 |
| NG_011785.3:g.5200_5206del | |
| NG_011785.4:g.5200_5206del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000876.4:c.52_58del MANE Select | NP_000867.3:p.Arg18SerfsTer? |
| ENST00000356956.6:c.52_58del MANE Select | ENSP00000349437.1:p.Arg18SerfsTer? |
| NM_000876.2:c.52_58del | NP_000867.2:p.Arg18SerfsTer? |
| NM_000876.3:c.52_58del | NP_000867.2:p.Arg18SerfsTer? |
| ENST00000356956.5:c.52_58del | ENSP00000349437.1:p.Arg18SerfsTer? |
| ENST00000676781.1:c.52_58del | ENSP00000504419.1:p.Arg18SerfsTer? |
| ENST00000677704.1:c.52_58del | ENSP00000503314.1:p.Arg18SerfsTer? |
| XR_942419.1:n.67_73del |