Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002109_21002110delinsCT , CM000664.2:g.21002109_21002110delinsCT | GRCh38 |
| NC_000002.11:g.21224981_21224982delinsCT , CM000664.1:g.21224981_21224982delinsCT | GRCh37 |
| NC_000002.10:g.21078486_21078487delinsCT | NCBI36 |
| NG_011793.1:g.46964_46965delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13312_13313delinsAG MANE Select | ENSP00000233242.1:p.Ser4438= | |
| ENST00000616098.4:c.13310_13311delinsAG | ENSP00000477990.1:n.13310_13311delinsAG | |
| NM_000384.2:c.13312_13313delinsAG | NP_000375.2:p.Ser4438= | |
| XM_011532809.1:c.5870-2837_5870-2836delinsAG | XP_011531111.1:n.5870-2837_5870-2836delinsAG | |
| NM_000384.3:c.13312_13313delinsAG MANE Select | NP_000375.3:p.Ser4438= |