Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974618_94974619delinsAT , CM000672.2:g.94974618_94974619delinsAT | GRCh38 |
| NC_000010.10:g.96734375_96734376delinsAT , CM000672.1:g.96734375_96734376delinsAT | GRCh37 |
| NC_000010.9:g.96724365_96724366delinsAT | NCBI36 |
| NG_008385.1:g.40961_40962delinsAT | |
| NG_008385.2:g.41461_41462delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.961+2373_961+2374delinsAT MANE Select | ENSP00000260682.6:n.961+2373_961+2374deli... | |
| ENST00000643112.1:c.820-6565_820-6564delinsAT | ENSP00000496202.1:n.820-6565_820-6564deli... | |
| ENST00000260682.6:c.961+2373_961+2374delinsAT | ENSP00000260682.6:n.961+2373_961+2374deli... | |
| NM_000771.3:c.961+2373_961+2374delinsAT | NP_000762.2:n.961+2373_961+2374delinsAT | |
| NM_000771.4:c.961+2373_961+2374delinsAT MANE Select | NP_000762.2:n.961+2373_961+2374delinsAT |