Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888345_20888348delinsACAC , CM000684.2:g.20888345_20888348delinsACAC | GRCh38 |
| NC_000022.10:g.21242633_21242636delinsACAC , CM000684.1:g.21242633_21242636delinsACAC | GRCh37 |
| NC_000022.9:g.19572633_19572636delinsACAC | NCBI36 |
| NG_012152.1:g.34342_34345delinsACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*509_*512delinsACAC MANE Select | ENSP00000215730.6:n.*509_*512delinsACAC | |
| ENST00000215730.11:c.*509_*512delinsACAC | ENSP00000215730.6:n.*509_*512delinsACAC | |
| NM_004782.3:c.*509_*512delinsACAC | NP_004773.1:n.*509_*512delinsACAC | |
| NM_004782.4:c.*509_*512delinsACAC MANE Select | NP_004773.1:n.*509_*512delinsACAC |