Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429731_68429732delinsAT , CM000663.2:g.68429731_68429732delinsAT | GRCh38 |
| NC_000001.10:g.68895414_68895415delinsAT , CM000663.1:g.68895414_68895415delinsAT | GRCh37 |
| NC_000001.9:g.68668002_68668003delinsAT | NCBI36 |
| NG_008472.1:g.25228_25229delinsAT | |
| NG_008472.2:g.25228_25229delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*44_*45delinsAT MANE Select | ENSP00000262340.5:n.*44_*45delinsAT | |
| ENST00000262340.5:c.*44_*45delinsAT | ENSP00000262340.5:n.*44_*45delinsAT | |
| NM_000329.2:c.*44_*45delinsAT | NP_000320.1:n.*44_*45delinsAT | |
| XM_017002027.1:c.*44_*45delinsAT | XP_016857516.1:n.*44_*45delinsAT | |
| NM_000329.3:c.*44_*45delinsAT MANE Select | NP_000320.1:n.*44_*45delinsAT |