Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745978_41745979insTCCGCTGCCGCTGCCGCCGCC , CM000666.2:g.41745978_41745979insTCCGCTGCCGCTGCCGCCGCC | GRCh38 |
| NC_000004.11:g.41747995_41747996insTCCGCTGCCGCTGCCGCCGCC , CM000666.1:g.41747995_41747996insTCCGCTGCCGCTGCCGCCGCC | GRCh37 |
| NC_000004.10:g.41442752_41442753insTCCGCTGCCGCTGCCGCCGCC | NCBI36 |
| NG_008243.1:g.7995_7996insGGCGGCAGCGGCAGCGGAGGC , LRG_513:g.7995_7996insGGCGGCAGCGGCAGCGGAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.776_777insGGCGGCAGCGGCAGCGGAGGC MANE Select | ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla | |
| ENST00000226382.3:c.776_777insGGCGGCAGCGGCAGCGGAGGC | ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla | |
| NM_003924.3:c.776_777insGGCGGCAGCGGCAGCGGAGGC , LRG_513t1:c.776_777insGGCGGCAGCGGCAGCGGAGGC | NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla | |
| NM_003924.4:c.776_777insGGCGGCAGCGGCAGCGGAGGC MANE Select | NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla |