Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359229_59359230delinsGC , CM000680.2:g.59359229_59359230delinsGC | GRCh38 |
| NC_000018.9:g.57026461_57026462delinsGC , CM000680.1:g.57026461_57026462delinsGC | GRCh37 |
| NC_000018.8:g.55177441_55177442delinsGC | NCBI36 |
| NG_012097.1:g.5047_5048delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.6:c.15_16delinsGC MANE Select | ENSP00000251047.4:p.Arg5= | |
| ENST00000251047.5:c.15_16delinsGC | ENSP00000251047.4:p.Arg5= | |
| ENST00000587561.1:n.36_37delinsGC | ||
| NM_005570.3:c.15_16delinsGC | NP_005561.1:p.Arg5= | |
| NM_005570.4:c.15_16delinsGC MANE Select | NP_005561.1:p.Arg5= |