Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291999_6292000del , CM000666.2:g.6291999_6292000del | GRCh38 |
| NC_000004.11:g.6293726_6293727del , CM000666.1:g.6293726_6293727del | GRCh37 |
| NC_000004.10:g.6344627_6344628del | NCBI36 |
| NG_011700.1:g.27150_27151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.712+2_712+3del | ||
| ENST00000683395.1:c.689+2_689+3del | ||
| ENST00000684087.1:c.712+2_712+3del | ||
| ENST00000506362.2:c.463+2_463+3del | ||
| ENST00000673642.1:c.511+2_511+3del | ||
| ENST00000673991.1:c.712+2_712+3del | ||
| ENST00000226760.5:c.712+2_712+3del | ||
| ENST00000503569.5:c.712+2_712+3del | ||
| ENST00000506362.1:c.309+2_309+3del | ||
| ENST00000507765.1:n.897+2_897+3del | ||
| NM_001145853.1:c.712+2_712+3del | ||
| NM_006005.3:c.712+2_712+3del | ||
| XM_017008586.1:c.721+2_721+3del |