Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45529090_45529100delinsGGCGGCGGGTC , CM000681.2:g.45529090_45529100delinsGGCGGCGGGTC | GRCh38 |
| NC_000019.9:g.46032348_46032358delinsGGCGGCGGGTC , CM000681.1:g.46032348_46032358delinsGGCGGCGGGTC | GRCh37 |
| NC_000019.8:g.50724188_50724198delinsGGCGGCGGGTC | NCBI36 |
| NG_013332.1:g.60765_60775delinsGACCCGCCGCC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017989.2:c.499_509delinsGACCCGCCGCC | NP_001017989.2:p.Asp167= |
| NM_001017989.3:c.499_509delinsGACCCGCCGCC | NP_001017989.2:p.Asp167= |
| ENST00000323060.3:c.499_509delinsGACCCGCCGCC | ENSP00000319817.3:p.Asp167= |
| ENST00000323060.4:c.499_509delinsGACCCGCCGCC | ENSP00000319817.3:p.Asp167= |
| XM_011527348.1:c.340_350delinsGACCCGCCGCC | XP_011525650.1:p.Asp114= |