Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058015_6058016delinsAG , CM000674.2:g.6058015_6058016delinsAG | GRCh38 |
| NC_000012.11:g.6167181_6167182delinsAG , CM000674.1:g.6167181_6167182delinsAG | GRCh37 |
| NC_000012.10:g.6037442_6037443delinsAG | NCBI36 |
| NG_009072.1:g.71655_71656delinsCT | |
| NG_009072.2:g.71655_71656delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1562_1563delinsCT MANE Select | ENSP00000261405.5:p.Cys521Ser | |
| ENST00000261405.9:c.1562_1563delinsCT | ENSP00000261405.5:p.Cys521Ser | |
| ENST00000538635.5:n.420+52499_420+52500delinsCT | ||
| NM_000552.3:c.1562_1563delinsCT | NP_000543.2:p.Cys521Ser | |
| NM_000552.4:c.1562_1563delinsCT | NP_000543.2:p.Cys521Ser | |
| NM_000552.5:c.1562_1563delinsCT MANE Select | NP_000543.3:p.Cys521Ser |