Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421993_74421995delinsACT , CM000685.2:g.74421993_74421995delinsACT | GRCh38 |
| NC_000023.10:g.73641828_73641830delinsACT , CM000685.1:g.73641828_73641830delinsACT | GRCh37 |
| NC_000023.9:g.73558553_73558555delinsACT | NCBI36 |
| NG_011641.1:g.5744_5746delinsACT | |
| NG_011641.2:g.5744_5746delinsACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.356_358delinsACT MANE Select | ENSP00000465734.1:p.Asn119= | |
| ENST00000636771.1:c.102_104delinsACT | ||
| ENST00000587091.5:c.356_358delinsACT | ENSP00000465734.1:p.Asn119= | |
| NM_006517.4:c.356_358delinsACT | NP_006508.2:p.Asn119= | |
| XM_005262294.1:c.356_358delinsACT | XP_005262351.1:p.Asn119= | |
| XM_011531015.1:c.356_358delinsACT | XP_011529317.1:p.Asn119= | |
| NM_006517.5:c.356_358delinsACT MANE Select | NP_006508.2:p.Asn119= |