Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062620_94062621delinsTT , CM000663.2:g.94062620_94062621delinsTT | GRCh38 |
| NC_000001.10:g.94528176_94528177delinsTT , CM000663.1:g.94528176_94528177delinsTT | GRCh37 |
| NC_000001.9:g.94300764_94300765delinsTT | NCBI36 |
| NG_009073.1:g.63529_63530delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1893_1894delinsAA MANE Select | ENSP00000359245.3:p.Gly631= | |
| ENST00000649773.1:c.1893_1894delinsAA | ENSP00000496882.1:p.Gly631= | |
| ENST00000370225.3:c.1893_1894delinsAA | ENSP00000359245.3:p.Gly631= | |
| ENST00000536513.5:c.-65+553_-65+554delinsAA | ENSP00000439707.2:n.-65+553_-65+554delinsAA | |
| NM_000350.2:c.1893_1894delinsAA | NP_000341.2:p.Gly631= | |
| NM_000350.3:c.1893_1894delinsAA MANE Select | NP_000341.2:p.Gly631= |