Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947194_63947210delinsTGCGTGCAAGGCCCCCA , CM000679.2:g.63947194_63947210delinsTGCGTGCAAGGCCCCCA | GRCh38 |
| NC_000017.10:g.62024554_62024570delinsTGCGTGCAAGGCCCCCA , CM000679.1:g.62024554_62024570delinsTGCGTGCAAGGCCCCCA | GRCh37 |
| NC_000017.9:g.59378286_59378302delinsTGCGTGCAAGGCCCCCA | NCBI36 |
| NG_011699.1:g.30709_30725delinsTGGGGGCCTTGCACGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3319-43_3319-27delinsTGGGGGCCTTGCACGCA MANE Select | ENSP00000396320.1:n.3319-43_3319-27delinsTGGGGGCCTTGCACGCA | |
| ENST00000578147.5:c.3319-43_3319-27delinsTGGGGGCCTTGCACGCA | ENSP00000463963.1:n.3319-43_3319-27delinsTGGGGGCCTTGCACGCA | |
| NM_000334.4:c.3319-43_3319-27delinsTGGGGGCCTTGCACGCA MANE Select | NP_000325.4:n.3319-43_3319-27delinsTGGGGGCCTTGCACGCA | |
| XM_005257566.3:c.3319-43_3319-27delinsTGGGGGCCTTGCACGCA | XP_005257623.1:n.3319-43_3319-27delinsTGGGGGCCTTGCACGCA |