Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946024_138946039delinsGGCTGCAGCCGCAGCT , CM000665.2:g.138946024_138946039delinsGGCTGCAGCCGCAGCT | GRCh38 |
| NC_000003.11:g.138664866_138664881delinsGGCTGCAGCCGCAGCT , CM000665.1:g.138664866_138664881delinsGGCTGCAGCCGCAGCT | GRCh37 |
| NC_000003.10:g.140147556_140147571delinsGGCTGCAGCCGCAGCT | NCBI36 |
| NG_012454.1:g.6102_6117delinsAGCTGCGGCTGCAGCC | |
| NG_029796.1:g.3791_3806delinsGGCTGCAGCCGCAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.684_699delinsAGCTGCGGCTGCAGCC MANE Select | ENSP00000497217.1:p.Ala228= | |
| ENST00000330315.3:c.684_699delinsAGCTGCGGCTGCAGCC | ENSP00000333188.3:p.Ala228= | |
| NM_023067.3:c.684_699delinsAGCTGCGGCTGCAGCC | NP_075555.1:p.Ala228= | |
| NM_023067.4:c.684_699delinsAGCTGCGGCTGCAGCC MANE Select | NP_075555.1:p.Ala228= |