Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997890_93997893delinsACTC , CM000663.2:g.93997890_93997893delinsACTC | GRCh38 |
| NC_000001.10:g.94463446_94463449delinsACTC , CM000663.1:g.94463446_94463449delinsACTC | GRCh37 |
| NC_000001.9:g.94236034_94236037delinsACTC | NCBI36 |
| NG_009073.1:g.128257_128260delinsGAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6697_6700delinsGAGT MANE Select | ENSP00000359245.3:p.Glu2233= | |
| ENST00000370225.3:c.6697_6700delinsGAGT | ENSP00000359245.3:p.Glu2233= | |
| ENST00000536513.5:c.3073_3076delinsGAGT | ENSP00000439707.2:p.Glu1025= | |
| NM_000350.2:c.6697_6700delinsGAGT | NP_000341.2:p.Glu2233= | |
| NM_000350.3:c.6697_6700delinsGAGT MANE Select | NP_000341.2:p.Glu2233= |