Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44108980_44108983del , CM000669.2:g.44108980_44108983del | GRCh38 |
| NC_000007.13:g.44148579_44148582del , CM000669.1:g.44148579_44148582del | GRCh37 |
| NC_000007.12:g.44115104_44115107del | NCBI36 |
| NG_056775.1:g.9661_9664del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.4:c.1018+4_1018+7del | |
| NM_001129.5:c.1018+4_1018+7del | |
| ENST00000223357.7:c.1018+4_1018+7del | |
| ENST00000223357.8:c.1018+4_1018+7del | |
| ENST00000453052.1:c.46+4_46+7del | |
| ENST00000455443.5:c.695+4_695+7del | |
| XM_011515162.1:c.941-127_941-124del | XP_011513464.1:n.941-127_941-124del |