Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946017_138946045delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA , CM000665.2:g.138946017_138946045delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA | GRCh38 |
| NC_000003.11:g.138664859_138664887delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA , CM000665.1:g.138664859_138664887delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA | GRCh37 |
| NC_000003.10:g.140147549_140147577delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA | NCBI36 |
| NG_012454.1:g.6096_6124delinsTGCAGCAGCTGCGGCTGCAGCCGCGGGCC | |
| NG_029796.1:g.3784_3812delinsGGCCCGCGGCTGCAGCCGCAGCTGCTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.678_706delinsTGCAGCAGCTGCGGCTGCAGCCGCGGGCC MANE Select | ENSP00000497217.1:p.Ala226= | |
| ENST00000330315.3:c.678_706delinsTGCAGCAGCTGCGGCTGCAGCCGCGGGCC | ENSP00000333188.3:p.Ala226= | |
| NM_023067.3:c.678_706delinsTGCAGCAGCTGCGGCTGCAGCCGCGGGCC | NP_075555.1:p.Ala226= | |
| NM_023067.4:c.678_706delinsTGCAGCAGCTGCGGCTGCAGCCGCGGGCC MANE Select | NP_075555.1:p.Ala226= |