Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825700_127825712del , CM000671.2:g.127825700_127825712del | GRCh38 |
| NC_000009.11:g.130587979_130587991del , CM000671.1:g.130587979_130587991del | GRCh37 |
| NC_000009.10:g.129627800_129627812del | NCBI36 |
| NG_009551.1:g.34063_34075del , LRG_589:g.34063_34075del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.132_143+1del | ||
| ENST00000373203.9:c.678_689+1del | ||
| ENST00000344849.4:c.678_689+1del | ||
| ENST00000373203.8:c.678_689+1del | ||
| ENST00000480266.5:c.132_143+1del | ||
| NM_000118.3:c.678_689+1del , LRG_589t1:c.678_689+1del | ||
| NM_001114753.2:c.678_689+1del , LRG_589t2:c.678_689+1del | ||
| NM_001278138.1:c.132_143+1del | ||
| XR_001746952.2:n.82+242_82+254del | ||
| NM_001114753.3:c.678_689+1del | ||
| NM_001278138.2:c.132_143+1del |