Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322697_73322706delinsGCTGCTCCCA , CM000677.2:g.73322697_73322706delinsGCTGCTCCCA | GRCh38 |
| NC_000015.9:g.73615038_73615047delinsGCTGCTCCCA , CM000677.1:g.73615038_73615047delinsGCTGCTCCCA | GRCh37 |
| NC_000015.8:g.71402091_71402100delinsGCTGCTCCCA | NCBI36 |
| NG_009063.1:g.51559_51568delinsTGGGAGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3387_3396delinsTGGGAGCAGC MANE Select | ENSP00000261917.3:p.Ser1129= | |
| ENST00000261917.3:c.3387_3396delinsTGGGAGCAGC | ENSP00000261917.3:p.Ser1129= | |
| NM_005477.2:c.3387_3396delinsTGGGAGCAGC | NP_005468.1:p.Ser1129= | |
| XM_011521148.1:c.2169_2178delinsTGGGAGCAGC | XP_011519450.1:p.Ser723= | |
| XM_011521148.2:c.2169_2178delinsTGGGAGCAGC | XP_011519450.1:p.Ser723= | |
| NM_005477.3:c.3387_3396delinsTGGGAGCAGC MANE Select | NP_005468.1:p.Ser1129= |