Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413421_147413422insCACCATCGT , CM000665.2:g.147413421_147413422insCACCATCGT | GRCh38 |
| NC_000003.11:g.147131208_147131209insCACCATCGT , CM000665.1:g.147131208_147131209insCACCATCGT | GRCh37 |
| NC_000003.10:g.148613898_148613899insCACCATCGT | NCBI36 |
| NG_015886.1:g.9028_9029insCACCATCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1214_1215insCACCATCGT MANE Select | ENSP00000282928.4:p.Thr405_Pro406insThrIleVal | |
| ENST00000282928.4:c.1214_1215insCACCATCGT | ENSP00000282928.4:p.Thr405_Pro406insThrIleVal | |
| ENST00000472523.1:n.521+19479_521+19480insCACCATCGT | ||
| ENST00000488404.5:c.280_281insCACCATCGT | ||
| NM_003412.3:c.1214_1215insCACCATCGT | NP_003403.2:p.Thr405_Pro406insThrIleVal | |
| NM_003412.4:c.1214_1215insCACCATCGT MANE Select | NP_003403.2:p.Thr405_Pro406insThrIleVal |