Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739774_86739775del , CM000670.2:g.86739774_86739775del | GRCh38 |
| NC_000008.10:g.87752002_87752003del , CM000670.1:g.87752002_87752003del | GRCh37 |
| NC_000008.9:g.87821118_87821119del | NCBI36 |
| NG_016980.1:g.8901_8902del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-39_130-38del MANE Select | ENSP00000316605.5:n.130-39_130-38del | |
| ENST00000681746.1:c.130-39_130-38del | ENSP00000505959.1:n.130-39_130-38del | |
| ENST00000320005.5:c.130-39_130-38del | ENSP00000316605.5:n.130-39_130-38del | |
| ENST00000519777.1:n.112-39_112-38del | ||
| NM_019098.4:c.130-39_130-38del | NP_061971.3:n.130-39_130-38del | |
| NM_019098.5:c.130-39_130-38del MANE Select | NP_061971.3:n.130-39_130-38del |