Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444387_1444391delinsAACAC , CM000667.2:g.1444387_1444391delinsAACAC | GRCh38 |
| NC_000005.9:g.1444502_1444506delinsAACAC , CM000667.1:g.1444502_1444506delinsAACAC | GRCh37 |
| NC_000005.8:g.1497502_1497506delinsAACAC | NCBI36 |
| NG_015885.1:g.6038_6042delinsGTGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+957_-46+961delinsGTGTT MANE Select | ENSP00000270349.9:n.-46+957_-46+961delinsGTGTT | |
| ENST00000270349.11:c.-46+957_-46+961delinsGTGTT | ENSP00000270349.9:n.-46+957_-46+961delinsGTGTT | |
| NM_001044.4:c.-46+957_-46+961delinsGTGTT | NP_001035.1:n.-46+957_-46+961delinsGTGTT | |
| NM_001044.5:c.-46+957_-46+961delinsGTGTT MANE Select | NP_001035.1:n.-46+957_-46+961delinsGTGTT |