Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769876_94769877insCAC , CM000676.2:g.94769876_94769877insCAC | GRCh38 |
| NC_000014.8:g.95236213_95236214insCAC , CM000676.1:g.95236213_95236214insCAC | GRCh37 |
| NC_000014.7:g.94305966_94305967insCAC | NCBI36 |
| NG_034111.1:g.5287_5288insTGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.140_141insTGG MANE Select | NP_776248.1:p.Ser47_Gly48insGly |
| ENST00000238558.5:c.140_141insTGG MANE Select | ENSP00000238558.3:p.Ser47_Gly48insGly |
| NM_173849.2:c.140_141insTGG | NP_776248.1:p.Ser47_Gly48insGly |
| ENST00000238558.4:c.140_141insTGG | ENSP00000238558.3:p.Ser47_Gly48insGly |