Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887133_12887143delinsGTGGCCATGGC , CM000681.2:g.12887133_12887143delinsGTGGCCATGGC | GRCh38 |
| NC_000019.9:g.12997947_12997957delinsGTGGCCATGGC , CM000681.1:g.12997947_12997957delinsGTGGCCATGGC | GRCh37 |
| NC_000019.8:g.12858947_12858957delinsGTGGCCATGGC | NCBI36 |
| NG_009292.1:g.974_984delinsGTGGCCATGGC | |
| NG_013087.1:g.5061_5071delinsGCCATGGCCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.-3_8delinsGCCATGGCCAC | ||
| ENST00000264834.4:c.-3_8delinsGCCATGGCCAC | ||
| NM_006563.3:c.-3_8delinsGCCATGGCCAC | ||
| NM_006563.4:c.-3_8delinsGCCATGGCCAC | ||
| NM_006563.5:c.-3_8delinsGCCATGGCCAC |