Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220605_32220607delinsGTC , CM000668.2:g.32220605_32220607delinsGTC | GRCh38 |
| NC_000006.11:g.32188382_32188384delinsGTC , CM000668.1:g.32188382_32188384delinsGTC | GRCh37 |
| NC_000006.10:g.32296360_32296362delinsGTC | NCBI36 |
| NG_028190.1:g.8461_8463delinsGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.957_959delinsGAC MANE Select | ENSP00000364163.3:p.Glu319= | |
| ENST00000473562.1:n.1086_1088delinsGAC | ||
| NM_004557.3:c.957_959delinsGAC | NP_004548.3:p.Glu319= | |
| NR_134949.1:n.1096_1098delinsGAC | ||
| NR_134950.1:n.1096_1098delinsGAC | ||
| NM_004557.4:c.957_959delinsGAC MANE Select | NP_004548.3:p.Glu319= | |
| NR_134949.2:n.1096_1098delinsGAC | ||
| NR_134950.2:n.1096_1098delinsGAC |