Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039993_55039995delinsAGT , CM000663.2:g.55039993_55039995delinsAGT | GRCh38 |
| NC_000001.10:g.55505666_55505668delinsAGT , CM000663.1:g.55505666_55505668delinsAGT | GRCh37 |
| NC_000001.9:g.55278254_55278256delinsAGT | NCBI36 |
| NG_009061.1:g.5447_5449delinsAGT , LRG_275:g.5447_5449delinsAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.156_158delinsAGT | ENSP00000501161.2:p.Ala53Val | |
| ENST00000710286.1:c.513_515delinsAGT | ENSP00000518176.1:p.Ala172Val | |
| ENST00000673726.1:c.156_158delinsAGT | ENSP00000501004.1:p.Ala53Val | |
| ENST00000302118.5:c.156_158delinsAGT MANE Select | ENSP00000303208.5:p.Ala53Val | |
| NM_174936.3:c.156_158delinsAGT , LRG_275t1:c.156_158delinsAGT | NP_777596.2:p.Ala53Val | |
| NM_174936.4:c.156_158delinsAGT MANE Select | NP_777596.2:p.Ala53Val |