Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66510657_66510696del , CM000673.2:g.66510657_66510696del | GRCh38 |
| NC_000011.9:g.66278128_66278167del , CM000673.1:g.66278128_66278167del | GRCh37 |
| NC_000011.8:g.66034704_66034743del | NCBI36 |
| NG_009093.1:g.5010_5049del | |
| NG_032068.1:g.35249_35288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.-3_37del | ||
| ENST00000318312.11:c.-3_37del | ||
| ENST00000419755.3:c.159-356_159-317del | ENSP00000398526.3:n.159-356_159-317del | |
| ENST00000455748.6:c.-3_37del | ||
| ENST00000525809.5:c.-3_37del | ||
| ENST00000526035.5:c.-3_37del | ||
| ENST00000526760.5:c.-3_37del | ||
| ENST00000526815.5:c.-399_-360del | ENSP00000436860.1:n.-399_-360del | |
| ENST00000527251.5:c.-399_-360del | ENSP00000434360.1:n.-399_-360del | |
| ENST00000529955.5:n.16_55del | ||
| ENST00000533557.5:c.-3_37del | ||
| ENST00000533644.5:c.-3_37del | ||
| NM_024649.5:c.-3_37del |