Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6085891_6088604del , CM000682.2:g.6085891_6088604del | GRCh38 |
| NC_000020.10:g.6066538_6069251del , CM000682.1:g.6066538_6069251del | GRCh37 |
| NC_000020.9:g.6014538_6017251del | NCBI36 |
| NG_016213.1:g.39943_42656del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.4:c.1264+363_1372-602del | |
| NM_017671.5:c.1264+363_1372-602del | |
| ENST00000217289.8:c.1264+363_1372-602del | |
| ENST00000217289.9:c.1264+363_1372-602del | |
| ENST00000478194.1:n.224+363_332-602del | |
| ENST00000536936.1:c.493+363_601-602del | |
| ENST00000699095.1:c.1264+363_1372-602del | |
| XM_024451935.1:c.1264+363_1372-602del |