Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63940984_63940985delinsAG , CM000679.2:g.63940984_63940985delinsAG | GRCh38 |
| NC_000017.10:g.62018344_62018345delinsAG , CM000679.1:g.62018344_62018345delinsAG | GRCh37 |
| NC_000017.9:g.59372076_59372077delinsAG | NCBI36 |
| NG_011699.1:g.36934_36935delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5297_5298delinsCT MANE Select | ENSP00000396320.1:p.Pro1766= | |
| ENST00000578147.5:c.5297_5298delinsCT | ENSP00000463963.1:p.Pro1766= | |
| NM_000334.4:c.5297_5298delinsCT MANE Select | NP_000325.4:p.Pro1766= | |
| XM_005257566.3:c.5297_5298delinsCT | XP_005257623.1:p.Pro1766= |