Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480192_45480193delinsGC , CM000677.2:g.45480192_45480193delinsGC | GRCh38 |
| NC_000015.9:g.45772390_45772391delinsGC , CM000677.1:g.45772390_45772391delinsGC | GRCh37 |
| NC_000015.8:g.43559682_43559683delinsGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*4970_*4971delinsGC MANE Select | ENSP00000261867.3:n.*4970_*4971delinsGC | |
| ENST00000261867.4:c.*4970_*4971delinsGC | ENSP00000261867.3:n.*4970_*4971delinsGC | |
| NM_013309.5:c.*4970_*4971delinsGC | NP_037441.2:n.*4970_*4971delinsGC | |
| NM_013309.6:c.*4970_*4971delinsGC MANE Select | NP_037441.2:n.*4970_*4971delinsGC |