Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610525_1610534delinsGCGCGGCGGC , CM000668.2:g.1610525_1610534delinsGCGCGGCGGC | GRCh38 |
| NC_000006.11:g.1610760_1610769delinsGCGCGGCGGC , CM000668.1:g.1610760_1610769delinsGCGCGGCGGC | GRCh37 |
| NC_000006.10:g.1555759_1555768delinsGCGCGGCGGC | NCBI36 |
| NG_009368.1:g.5080_5089delinsGCGCGGCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.80_89delinsGCGCGGCGGC MANE Select | ENSP00000493906.1:p.Arg27= | |
| ENST00000380874.3:c.80_89delinsGCGCGGCGGC | ENSP00000370256.2:p.Arg27= | |
| NM_001453.2:c.80_89delinsGCGCGGCGGC | NP_001444.2:p.Arg27= | |
| NM_001453.3:c.80_89delinsGCGCGGCGGC MANE Select | NP_001444.2:p.Arg27= |