Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739789_86739790insACC , CM000670.2:g.86739789_86739790insACC | GRCh38 |
| NC_000008.10:g.87752017_87752018insACC , CM000670.1:g.87752017_87752018insACC | GRCh37 |
| NC_000008.9:g.87821133_87821134insACC | NCBI36 |
| NG_016980.1:g.8886_8887insGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-54_130-53insGGT MANE Select | ENSP00000316605.5:n.130-54_130-53insGGT | |
| ENST00000681746.1:c.130-54_130-53insGGT | ENSP00000505959.1:n.130-54_130-53insGGT | |
| ENST00000320005.5:c.130-54_130-53insGGT | ENSP00000316605.5:n.130-54_130-53insGGT | |
| ENST00000519777.1:n.112-54_112-53insGGT | ||
| NM_019098.4:c.130-54_130-53insGGT | NP_061971.3:n.130-54_130-53insGGT | |
| NM_019098.5:c.130-54_130-53insGGT MANE Select | NP_061971.3:n.130-54_130-53insGGT |