Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814241_218814244delinsCAGA , CM000664.2:g.218814241_218814244delinsCAGA | GRCh38 |
| NC_000002.11:g.219678964_219678967delinsCAGA , CM000664.1:g.219678964_219678967delinsCAGA | GRCh37 |
| NC_000002.10:g.219387208_219387211delinsCAGA | NCBI36 |
| NG_007959.1:g.37493_37496delinsCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+54_1184+57delinsCAGA MANE Select | ENSP00000258415.4:n.1184+54_1184+57delinsCAGA | |
| ENST00000258415.8:c.1184+54_1184+57delinsCAGA | ENSP00000258415.4:n.1184+54_1184+57delinsCAGA | |
| ENST00000494263.5:n.1672_1675delinsCAGA | ||
| NM_000784.3:c.1184+54_1184+57delinsCAGA | NP_000775.1:n.1184+54_1184+57delinsCAGA | |
| XM_017003488.2:c.764+54_764+57delinsCAGA | XP_016858977.1:n.764+54_764+57delinsCAGA | |
| NM_000784.4:c.1184+54_1184+57delinsCAGA MANE Select | NP_000775.1:n.1184+54_1184+57delinsCAGA |