Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887043_12887056del , CM000681.2:g.12887043_12887056del | GRCh38 |
| NC_000019.9:g.12997857_12997870del , CM000681.1:g.12997857_12997870del | GRCh37 |
| NC_000019.8:g.12858857_12858870del | NCBI36 |
| NG_009292.1:g.884_897del | |
| NG_013087.1:g.5157_5170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.87+7_87+20del | ||
| ENST00000264834.4:c.87+7_87+20del | ||
| NM_006563.3:c.87+7_87+20del | ||
| XM_011527642.1:c.-117+7_-117+20del | ||
| NM_006563.4:c.87+7_87+20del | ||
| XM_011527642.2:c.-117+7_-117+20del | ||
| NM_006563.5:c.87+7_87+20del |