Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002348_21002349delinsCT , CM000664.2:g.21002348_21002349delinsCT | GRCh38 |
| NC_000002.11:g.21225220_21225221delinsCT , CM000664.1:g.21225220_21225221delinsCT | GRCh37 |
| NC_000002.10:g.21078725_21078726delinsCT | NCBI36 |
| NG_011793.1:g.46725_46726delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13073_13074delinsAG MANE Select | ENSP00000233242.1:p.Lys4358= | |
| ENST00000616098.4:c.13071_13072delinsAG | ENSP00000477990.1:n.13071_13072delinsAG | |
| NM_000384.2:c.13073_13074delinsAG | NP_000375.2:p.Lys4358= | |
| XM_011532809.1:c.5870-3076_5870-3075delinsAG | XP_011531111.1:n.5870-3076_5870-3075delinsAG | |
| NM_000384.3:c.13073_13074delinsAG MANE Select | NP_000375.3:p.Lys4358= |