Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12904486_12904487del , CM000686.2:g.12904486_12904487del | GRCh38 |
| NC_000024.9:g.15016397_15016398del , CM000686.1:g.15016397_15016398del | GRCh37 |
| NC_000024.8:g.13525791_13525792del | NCBI36 |
| NG_012831.1:g.5379_5380del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360160.8:c.-3+72_-3+73del | ENSP00000353284.4:n.-3+72_-3+73del | |
| ENST00000454054.5:c.-80+72_-80+73del | ENSP00000398953.1:n.-80+72_-80+73del | |
| NM_001122665.2:c.-3+72_-3+73del | NP_001116137.1:n.-3+72_-3+73del | |
| NM_001122665.3:c.-3+72_-3+73del | NP_001116137.1:n.-3+72_-3+73del |