Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877884_6877886delinsTTC , CM000670.2:g.6877884_6877886delinsTTC | GRCh38 |
| NC_000008.10:g.6735406_6735408delinsTTC , CM000670.1:g.6735406_6735408delinsTTC | GRCh37 |
| NC_000008.9:g.6722816_6722818delinsTTC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297439.4:c.-29_-27delinsGAA MANE Select | ENSP00000297439.3:n.-29_-27delinsGAA | |
| ENST00000297439.3:c.-29_-27delinsGAA | ENSP00000297439.3:n.-29_-27delinsGAA | |
| NM_005218.3:c.-29_-27delinsGAA | NP_005209.1:n.-29_-27delinsGAA | |
| NM_005218.4:c.-29_-27delinsGAA MANE Select | NP_005209.1:n.-29_-27delinsGAA |