Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124927_49125006del , CM000665.2:g.49124927_49125006del | GRCh38 |
| NC_000003.11:g.49162360_49162439del , CM000665.1:g.49162360_49162439del | GRCh37 |
| NC_000003.10:g.49137364_49137443del | NCBI36 |
| NG_008094.1:g.13163_13242del | |
| NG_054716.1:g.935_1014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2884+2_2885del | ||
| ENST00000305544.8:c.2884+2_2885del | ||
| ENST00000418109.5:c.2884+2_2885del | ||
| ENST00000462930.5:n.291+2_292del | ||
| ENST00000464891.5:n.617+2_618del | ||
| ENST00000483057.1:n.484+2_485del | ||
| ENST00000542580.1:n.199+2_200del | ||
| NM_002292.3:c.2884+2_2885del | ||
| XM_005265127.3:c.2884+2_2885del | ||
| XM_005265127.4:c.2884+2_2885del | ||
| NM_002292.4:c.2884+2_2885del |