Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58491468_58491469delinsATT , CM000670.2:g.58491468_58491469delinsATT | GRCh38 |
| NC_000008.10:g.59404027_59404028delinsATT , CM000670.1:g.59404027_59404028delinsATT | GRCh37 |
| NC_000008.9:g.59566581_59566582delinsATT | NCBI36 |
| NG_007969.1:g.13694_13695delinsAAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000780.4:c.*6_*7delinsAAT MANE Select | NP_000771.2:n.*6_*7delinsAAT |
| ENST00000301645.4:c.*6_*7delinsAAT MANE Select | ENSP00000301645.3:n.*6_*7delinsAAT |
| NM_000780.3:c.*6_*7delinsAAT | NP_000771.2:n.*6_*7delinsAAT |
| ENST00000301645.3:c.*6_*7delinsAAT | ENSP00000301645.3:n.*6_*7delinsAAT |
| XM_011517476.1:c.*6_*7delinsAAT | XP_011515778.1:n.*6_*7delinsAAT |