Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781712_94781714delinsAAT , CM000672.2:g.94781712_94781714delinsAAT | GRCh38 |
| NC_000010.10:g.96541469_96541471delinsAAT , CM000672.1:g.96541469_96541471delinsAAT | GRCh37 |
| NC_000010.9:g.96531459_96531461delinsAAT | NCBI36 |
| NG_008384.2:g.24007_24009delinsAAT | |
| NG_008384.3:g.24032_24034delinsAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.643-109_643-107delinsAAT MANE Select | ENSP00000360372.3:n.643-109_643-107delinsAAT | |
| ENST00000645461.1:n.1696-109_1696-107delinsAAT | ||
| ENST00000371321.7:c.643-109_643-107delinsAAT | ENSP00000360372.3:n.643-109_643-107delinsAAT | |
| ENST00000464755.1:c.1406-109_1406-107delinsAAT | ENSP00000483243.1:n.1406-109_1406-107delinsAAT | |
| NM_000769.2:c.643-109_643-107delinsAAT | NP_000760.1:n.643-109_643-107delinsAAT | |
| NM_000769.4:c.643-109_643-107delinsAAT MANE Select | NP_000760.1:n.643-109_643-107delinsAAT |