Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965786_37965788delinsGAA , CM000670.2:g.37965786_37965788delinsGAA | GRCh38 |
| NC_000008.10:g.37823304_37823306delinsGAA , CM000670.1:g.37823304_37823306delinsGAA | GRCh37 |
| NC_000008.9:g.37942461_37942463delinsGAA | NCBI36 |
| NG_011936.1:g.5879_5881delinsTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.682_684delinsTTC MANE Select | ENSP00000343782.3:p.Phe228= | |
| ENST00000520341.2:n.810_812delinsTTC | ||
| ENST00000647937.1:c.166_168delinsTTC | ENSP00000497740.1:p.Phe56= | |
| ENST00000345060.4:c.682_684delinsTTC | ENSP00000343782.3:p.Phe228= | |
| ENST00000614635.1:c.682_684delinsTTC | ENSP00000480325.1:p.Phe228= | |
| NM_000025.2:c.682_684delinsTTC | NP_000016.1:p.Phe228= | |
| NM_000025.3:c.682_684delinsTTC MANE Select | NP_000016.1:p.Phe228= |