Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345859_76345862delinsTCC , CM000674.2:g.76345859_76345862delinsTCC | GRCh38 |
| NC_000012.11:g.76739639_76739642delinsTCC , CM000674.1:g.76739639_76739642delinsTCC | GRCh37 |
| NC_000012.10:g.75263770_75263773delinsTCC | NCBI36 |
| NG_016357.1:g.7581_7584delinsGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2123_2126delinsGGA MANE Select | ENSP00000497413.1:p.Lys708ArgfsTer22 | |
| ENST00000393262.3:c.2123_2126delinsGGA | ENSP00000376946.3:p.Lys708ArgfsTer22 | |
| NM_024685.3:c.2123_2126delinsGGA | NP_078961.3:p.Lys708ArgfsTer22 | |
| NM_024685.4:c.2123_2126delinsGGA MANE Select | NP_078961.3:p.Lys708ArgfsTer22 |