Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780494_6780495delinsCT , CM000679.2:g.6780494_6780495delinsCT | GRCh38 |
| NC_000017.10:g.6683813_6683814delinsCT , CM000679.1:g.6683813_6683814delinsCT | GRCh37 |
| NC_000017.9:g.6624537_6624538delinsCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.626_627delinsCT MANE Select | ENSP00000321386.4:p.Ala209= | |
| ENST00000321535.4:c.626_627delinsCT | ENSP00000321386.4:p.Ala209= | |
| NM_153230.2:c.626_627delinsCT | NP_694962.1:p.Ala209= | |
| XM_011523697.1:c.626_627delinsCT | XP_011521999.1:p.Ala209= | |
| XR_243544.3:n.804_805delinsCT | ||
| NM_153230.3:c.626_627delinsCT MANE Select | NP_694962.1:p.Ala209= |