Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652490_10652491delinsAG , CM000682.2:g.10652490_10652491delinsAG | GRCh38 |
| NC_000020.10:g.10633138_10633139delinsAG , CM000682.1:g.10633138_10633139delinsAG | GRCh37 |
| NC_000020.9:g.10581138_10581139delinsAG | NCBI36 |
| NG_007496.1:g.26556_26557delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.863_864delinsCT MANE Select | NP_000205.1:p.Trp288Ser |
| ENST00000254958.10:c.863_864delinsCT MANE Select | ENSP00000254958.4:p.Trp288Ser |
| NM_000214.2:c.863_864delinsCT | NP_000205.1:p.Trp288Ser |
| ENST00000254958.9:c.863_864delinsCT | ENSP00000254958.4:p.Trp288Ser |
| ENST00000423891.6:n.729_730delinsCT | |
| ENST00000617965.1:n.232_233delinsCT | |
| ENST00000617965.2:n.232_233delinsCT |