Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10640815_10640816del , CM000682.2:g.10640815_10640816del | GRCh38 |
| NC_000020.10:g.10621463_10621464del , CM000682.1:g.10621463_10621464del | GRCh37 |
| NC_000020.9:g.10569463_10569464del | NCBI36 |
| NG_007496.1:g.38233_38234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3168_3169del MANE Select | ENSP00000254958.4:p.Arg1056SerfsTer? | |
| ENST00000254958.9:c.3168_3169del | ENSP00000254958.4:p.Arg1056SerfsTer? | |
| ENST00000423891.6:n.3034_3035del | ||
| ENST00000617357.1:n.463_464del | ||
| NM_000214.2:c.3168_3169del | NP_000205.1:p.Arg1056SerfsTer? | |
| NM_000214.3:c.3168_3169del MANE Select | NP_000205.1:p.Arg1056SerfsTer? |