Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829941_68829945delinsGGCAC , CM000685.2:g.68829941_68829945delinsGGCAC | GRCh38 |
| NC_000023.10:g.68049784_68049788delinsGGCAC , CM000685.1:g.68049784_68049788delinsGGCAC | GRCh37 |
| NC_000023.9:g.67966509_67966513delinsGGCAC | NCBI36 |
| NG_008887.1:g.5945_5949delinsGGCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.128+37_128+41delinsGGCAC MANE Select | ENSP00000204961.4:n.128+37_128+41delinsGGCAC | |
| ENST00000204961.4:c.128+37_128+41delinsGGCAC | ENSP00000204961.4:n.128+37_128+41delinsGGCAC | |
| NM_004429.4:c.128+37_128+41delinsGGCAC | NP_004420.1:n.128+37_128+41delinsGGCAC | |
| NM_004429.5:c.128+37_128+41delinsGGCAC MANE Select | NP_004420.1:n.128+37_128+41delinsGGCAC |