Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755094_74755097delinsACAC , CM000677.2:g.74755094_74755097delinsACAC | GRCh38 |
| NC_000015.9:g.75047435_75047438delinsACAC , CM000677.1:g.75047435_75047438delinsACAC | GRCh37 |
| NC_000015.8:g.72834488_72834491delinsACAC | NCBI36 |
| NG_008431.1:g.37553_37556delinsACAC | |
| NG_008431.2:g.37553_37556delinsACAC | |
| NG_061543.1:g.11250_11253delinsACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*6_*9delinsACAC MANE Select | ENSP00000342007.4:n.*6_*9delinsACAC | |
| ENST00000343932.4:c.*6_*9delinsACAC | ENSP00000342007.4:n.*6_*9delinsACAC | |
| NM_000761.4:c.*6_*9delinsACAC | NP_000752.2:n.*6_*9delinsACAC | |
| NM_000761.5:c.*6_*9delinsACAC MANE Select | NP_000752.2:n.*6_*9delinsACAC |