Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854274_127854295del , CM000671.2:g.127854274_127854295del | GRCh38 |
| NC_000009.11:g.130616553_130616574del , CM000671.1:g.130616553_130616574del | GRCh37 |
| NC_000009.10:g.129656374_129656395del | NCBI36 |
| NG_009551.1:g.5478_5499del , LRG_589:g.5478_5499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.65_67+19del | ||
| ENST00000344849.4:c.65_67+19del | ||
| ENST00000373203.8:c.65_67+19del | ||
| NM_000118.3:c.65_67+19del , LRG_589t1:c.65_67+19del | ||
| NM_001114753.2:c.65_67+19del , LRG_589t2:c.65_67+19del | ||
| NM_001114753.3:c.65_67+19del |