Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780505_6780506delinsAG , CM000679.2:g.6780505_6780506delinsAG | GRCh38 |
| NC_000017.10:g.6683824_6683825delinsAG , CM000679.1:g.6683824_6683825delinsAG | GRCh37 |
| NC_000017.9:g.6624548_6624549delinsAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.637_638delinsAG MANE Select | ENSP00000321386.4:p.Ser213= | |
| ENST00000321535.4:c.637_638delinsAG | ENSP00000321386.4:p.Ser213= | |
| NM_153230.2:c.637_638delinsAG | NP_694962.1:p.Ser213= | |
| XM_011523697.1:c.637_638delinsAG | XP_011521999.1:p.Ser213= | |
| XR_243544.3:n.815_816delinsAG | ||
| NM_153230.3:c.637_638delinsAG MANE Select | NP_694962.1:p.Ser213= |