Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408657_48408659delinsTAA , CM000677.2:g.48408657_48408659delinsTAA | GRCh38 |
| NC_000015.9:g.48700854_48700856delinsTAA , CM000677.1:g.48700854_48700856delinsTAA | GRCh37 |
| NC_000015.8:g.46488146_46488148delinsTAA | NCBI36 |
| NG_008805.2:g.242130_242132delinsTTA , LRG_778:g.242130_242132delinsTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.5128_5130delinsTTA | ||
| ENST00000682767.1:n.4244_4246delinsTTA | ||
| ENST00000316623.10:c.*2331_*2333delinsTTA MANE Select | ENSP00000325527.5:n.*2331_*2333delinsTTA | |
| ENST00000316623.9:c.*2331_*2333delinsTTA | ENSP00000325527.5:n.*2331_*2333delinsTTA | |
| NM_000138.4:c.*2331_*2333delinsTTA , LRG_778t1:c.*2331_*2333delinsTTA | NP_000129.3:n.*2331_*2333delinsTTA | |
| NM_000138.5:c.*2331_*2333delinsTTA MANE Select | NP_000129.3:n.*2331_*2333delinsTTA |