Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126781_9126782delinsGT , CM000681.2:g.9126781_9126782delinsGT | GRCh38 |
| NC_000019.9:g.9237457_9237458delinsGT , CM000681.1:g.9237457_9237458delinsGT | GRCh37 |
| NC_000019.8:g.9098457_9098458delinsGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.169_170delinsAC MANE Select | ENSP00000302867.2:p.Thr57= | |
| NM_001001958.1:c.169_170delinsAC MANE Select | NP_001001958.1:p.Thr57= |