Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039902_55039903insACT , CM000663.2:g.55039902_55039903insACT | GRCh38 |
| NC_000001.10:g.55505575_55505576insACT , CM000663.1:g.55505575_55505576insACT | GRCh37 |
| NC_000001.9:g.55278163_55278164insACT | NCBI36 |
| NG_009061.1:g.5356_5357insACT , LRG_275:g.5356_5357insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.65_66insACT | ENSP00000501161.2:p.Leu22_Leu23insLeu | |
| ENST00000710286.1:c.422_423insACT | ENSP00000518176.1:p.Leu141_Leu142insLeu | |
| ENST00000673726.1:c.65_66insACT | ENSP00000501004.1:p.Leu22_Leu23insLeu | |
| ENST00000302118.5:c.65_66insACT MANE Select | ENSP00000303208.5:p.Leu22_Leu23insLeu | |
| NM_174936.3:c.65_66insACT , LRG_275t1:c.65_66insACT | NP_777596.2:p.Leu22_Leu23insLeu | |
| NM_174936.4:c.65_66insACT MANE Select | NP_777596.2:p.Leu22_Leu23insLeu |