Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003913_47003915delinsGAC , CM000681.2:g.47003913_47003915delinsGAC | GRCh38 |
| NC_000019.9:g.47507170_47507172delinsGAC , CM000681.1:g.47507170_47507172delinsGAC | GRCh37 |
| NC_000019.8:g.52199010_52199012delinsGAC | NCBI36 |
| NG_047014.1:g.90347_90349delinsGAC | |
| NG_047014.2:g.147917_147919delinsGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7725_7727delinsGAC | ENSP00000385720.2:n.7725_7727delinsGAC | |
| ENST00000672722.1:c.*3225_*3227delinsGAC MANE Select | ENSP00000500409.1:n.*3225_*3227delinsGAC | |
| ENST00000404338.7:c.7725_7727delinsGAC | ENSP00000385720.2:n.7725_7727delinsGAC | |
| ENST00000614079.1:c.7302_7304delinsGAC | ENSP00000483730.1:n.7302_7304delinsGAC | |
| NM_004491.4:c.7725_7727delinsGAC | NP_004482.4:n.7725_7727delinsGAC | |
| NM_004491.5:c.*3225_*3227delinsGAC MANE Select | NP_004482.4:n.*3225_*3227delinsGAC |