Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129060779_129062406del , CM000665.2:g.129060779_129062406del | GRCh38 |
| NC_000003.11:g.128779622_128781249del , CM000665.1:g.128779622_128781249del | GRCh37 |
| NC_000003.10:g.130262312_130263939del | NCBI36 |
| NG_008715.1:g.4978_6605del , LRG_477:g.4978_6605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-210_*133del | ||
| ENST00000307395.4:c.-210_*133del | ||
| NM_000174.4:c.-210_*133del , LRG_477t1:c.-210_*133del | ||
| XM_005247374.3:c.-210_*133del | ||
| XM_011512701.1:c.-210_*133del | ||
| XM_011512702.1:c.-84_*133del | ||
| NM_000174.5:c.-210_*133del |