Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491696_11491700delinsAGTAC , CM000670.2:g.11491696_11491700delinsAGTAC | GRCh38 |
| NC_000008.10:g.11349205_11349209delinsAGTAC , CM000670.1:g.11349205_11349209delinsAGTAC | GRCh37 |
| NC_000008.9:g.11386614_11386618delinsAGTAC | NCBI36 |
| NG_023543.1:g.2685_2689delinsAGTAC | |
| NG_023543.2:g.2685_2689delinsAGTAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.274+4529_274+4533delinsAGTAC | ||
| ENST00000696154.1:c.-91+4529_-91+4533delinsAGTAC | ENSP00000512445.1:n.-91+4529_-91+4533deli... | |
| ENST00000645242.1:c.-91+4529_-91+4533delinsAGTAC | ENSP00000494690.1:n.-91+4529_-91+4533deli... |