Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173094_173095delinsAC , CM000678.2:g.173094_173095delinsAC | GRCh38 |
| NC_000016.9:g.223093_223094delinsAC , CM000678.1:g.223093_223094delinsAC | GRCh37 |
| NC_000016.8:g.163093_163094delinsAC | NCBI36 |
| NG_000006.1:g.33957_33958delinsAC | |
| NG_059186.1:g.1444_1445delinsAC | |
| NG_059271.1:g.5248_5249delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.96-31_96-30delinsAC MANE Select | ENSP00000251595.6:n.96-31_96-30delinsAC | |
| ENST00000251595.10:c.96-31_96-30delinsAC | ENSP00000251595.6:n.96-31_96-30delinsAC | |
| ENST00000397806.1:c.-1-31_-1-30delinsAC | ENSP00000380908.1:n.-1-31_-1-30delinsAC | |
| ENST00000482565.1:n.201_202delinsAC | ||
| ENST00000484216.1:n.65-31_65-30delinsAC | ||
| NM_000517.4:c.96-31_96-30delinsAC | NP_000508.1:n.96-31_96-30delinsAC | |
| NM_000517.6:c.96-31_96-30delinsAC MANE Select | NP_000508.1:n.96-31_96-30delinsAC |