Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94516479_94518237del , CM000663.2:g.94516479_94518237del | GRCh38 |
| NC_000001.10:g.94982035_94983793del , CM000663.1:g.94982035_94983793del | GRCh37 |
| NC_000001.9:g.94754623_94756381del | NCBI36 |
| NG_008865.1:g.103103_104861del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.1903-573_*1108del | ||
| ENST00000647998.2:c.1903-573_*1108del | ||
| ENST00000370214.8:c.1903-573_*1108del | ||
| ENST00000464165.1:n.1730-573_2915del | ||
| ENST00000484213.1:n.2753-573_3938del | ||
| NM_002858.3:c.1903-573_*1108del | ||
| XM_005271089.2:c.1810-573_*1108del | ||
| XM_006710802.2:c.1975-573_*1108del | ||
| XM_011541877.1:c.967-573_*1108del | ||
| NM_002858.4:c.1903-573_*1108del |