Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123931_72123932insGCCCCGCAGGCC , CM000679.2:g.72123931_72123932insGCCCCGCAGGCC | GRCh38 |
| NC_000017.10:g.70120072_70120073insGCCCCGCAGGCC , CM000679.1:g.70120072_70120073insGCCCCGCAGGCC | GRCh37 |
| NC_000017.9:g.67631667_67631668insGCCCCGCAGGCC | NCBI36 |
| NG_012490.1:g.7912_7913insGCCCCGCAGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1074_1075insGCCCCGCAGGCC MANE Select | ENSP00000245479.2:p.Ala358_Pro359insAlaProGlnAla | |
| ENST00000245479.2:c.1074_1075insGCCCCGCAGGCC | ENSP00000245479.2:p.Ala358_Pro359insAlaProGlnAla | |
| NM_000346.3:c.1074_1075insGCCCCGCAGGCC | NP_000337.1:p.Ala358_Pro359insAlaProGlnAla | |
| NM_000346.4:c.1074_1075insGCCCCGCAGGCC MANE Select | NP_000337.1:p.Ala358_Pro359insAlaProGlnAla |