Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780470_6780471delinsAG , CM000679.2:g.6780470_6780471delinsAG | GRCh38 |
| NC_000017.10:g.6683789_6683790delinsAG , CM000679.1:g.6683789_6683790delinsAG | GRCh37 |
| NC_000017.9:g.6624513_6624514delinsAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.602_603delinsAG MANE Select | ENSP00000321386.4:p.Glu201= | |
| ENST00000321535.4:c.602_603delinsAG | ENSP00000321386.4:p.Glu201= | |
| NM_153230.2:c.602_603delinsAG | NP_694962.1:p.Glu201= | |
| XM_011523697.1:c.602_603delinsAG | XP_011521999.1:p.Glu201= | |
| XR_243544.3:n.780_781delinsAG | ||
| NM_153230.3:c.602_603delinsAG MANE Select | NP_694962.1:p.Glu201= |