Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814715_218814716delinsAA , CM000664.2:g.218814715_218814716delinsAA | GRCh38 |
| NC_000002.11:g.219679438_219679439delinsAA , CM000664.1:g.219679438_219679439delinsAA | GRCh37 |
| NC_000002.10:g.219387682_219387683delinsAA | NCBI36 |
| NG_007959.1:g.37967_37968delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1434_1435delinsAA MANE Select | ENSP00000258415.4:p.Arg479Ser | |
| ENST00000258415.8:c.1434_1435delinsAA | ENSP00000258415.4:p.Arg479Ser | |
| ENST00000494263.5:n.2146_2147delinsAA | ||
| NM_000784.3:c.1434_1435delinsAA | NP_000775.1:p.Arg479Ser | |
| XM_017003488.2:c.1014_1015delinsAA | XP_016858977.1:p.Arg339Ser | |
| NM_000784.4:c.1434_1435delinsAA MANE Select | NP_000775.1:p.Arg479Ser |