Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367859_73367860delinsGA , CM000677.2:g.73367859_73367860delinsGA | GRCh38 |
| NC_000015.9:g.73660200_73660201delinsGA , CM000677.1:g.73660200_73660201delinsGA | GRCh37 |
| NC_000015.8:g.71447253_71447254delinsGA | NCBI36 |
| NG_009063.1:g.6405_6406delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.411_412delinsTC MANE Select | ENSP00000261917.3:p.Ser138Pro | |
| ENST00000261917.3:c.411_412delinsTC | ENSP00000261917.3:p.Ser138Pro | |
| NM_005477.2:c.411_412delinsTC | NP_005468.1:p.Ser138Pro | |
| NM_005477.3:c.411_412delinsTC MANE Select | NP_005468.1:p.Ser138Pro |