Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047799_23047800delinsTC , CM000682.2:g.23047799_23047800delinsTC | GRCh38 |
| NC_000020.10:g.23028436_23028437delinsTC , CM000682.1:g.23028436_23028437delinsTC | GRCh37 |
| NC_000020.9:g.22976436_22976437delinsTC | NCBI36 |
| NG_012027.1:g.6865_6866delinsGA , LRG_168:g.6865_6866delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1705_1706delinsGA MANE Select | ENSP00000366307.2:p.Glu569= | |
| ENST00000377103.2:c.1705_1706delinsGA | ENSP00000366307.2:p.Glu569= | |
| NM_000361.2:c.1705_1706delinsGA , LRG_168t1:c.1705_1706delinsGA | NP_000352.1:p.Glu569= | |
| NM_000361.3:c.1705_1706delinsGA MANE Select | NP_000352.1:p.Glu569= |