Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739814_86739816del , CM000670.2:g.86739814_86739816del | GRCh38 |
| NC_000008.10:g.87752042_87752044del , CM000670.1:g.87752042_87752044del | GRCh37 |
| NC_000008.9:g.87821158_87821160del | NCBI36 |
| NG_016980.1:g.8860_8862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-80_130-78del MANE Select | ENSP00000316605.5:n.130-80_130-78del | |
| ENST00000681746.1:c.130-80_130-78del | ENSP00000505959.1:n.130-80_130-78del | |
| ENST00000320005.5:c.130-80_130-78del | ENSP00000316605.5:n.130-80_130-78del | |
| ENST00000519777.1:n.112-80_112-78del | ||
| NM_019098.4:c.130-80_130-78del | NP_061971.3:n.130-80_130-78del | |
| NM_019098.5:c.130-80_130-78del MANE Select | NP_061971.3:n.130-80_130-78del |