Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944671_63944674delinsATCT , CM000679.2:g.63944671_63944674delinsATCT | GRCh38 |
| NC_000017.10:g.62022031_62022034delinsATCT , CM000679.1:g.62022031_62022034delinsATCT | GRCh37 |
| NC_000017.9:g.59375763_59375766delinsATCT | NCBI36 |
| NG_011699.1:g.33245_33248delinsAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3911_3912+2delinsAGAT | ||
| ENST00000578147.5:c.3911_3914delinsAGAT | ENSP00000463963.1:p.Lys1304= | |
| NM_000334.4:c.3911_3912+2delinsAGAT | ||
| XM_005257566.3:c.3911_3912+2delinsAGAT |