Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966283_37966284delinsCG , CM000670.2:g.37966283_37966284delinsCG | GRCh38 |
| NC_000008.10:g.37823801_37823802delinsCG , CM000670.1:g.37823801_37823802delinsCG | GRCh37 |
| NC_000008.9:g.37942958_37942959delinsCG | NCBI36 |
| NG_011936.1:g.5383_5384delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.186_187delinsCG MANE Select | ENSP00000343782.3:p.Ile62= | |
| ENST00000520341.2:n.314_315delinsCG | ||
| ENST00000345060.4:c.186_187delinsCG | ENSP00000343782.3:p.Ile62= | |
| ENST00000614635.1:c.186_187delinsCG | ENSP00000480325.1:p.Ile62= | |
| NM_000025.2:c.186_187delinsCG | NP_000016.1:p.Ile62= | |
| NM_000025.3:c.186_187delinsCG MANE Select | NP_000016.1:p.Ile62= |