Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965690_37965691delinsCG , CM000670.2:g.37965690_37965691delinsCG | GRCh38 |
| NC_000008.10:g.37823208_37823209delinsCG , CM000670.1:g.37823208_37823209delinsCG | GRCh37 |
| NC_000008.9:g.37942365_37942366delinsCG | NCBI36 |
| NG_011936.1:g.5976_5977delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.779_780delinsCG MANE Select | ENSP00000343782.3:p.Pro260= | |
| ENST00000520341.2:n.907_908delinsCG | ||
| ENST00000647937.1:c.263_264delinsCG | ENSP00000497740.1:p.Pro88= | |
| ENST00000345060.4:c.779_780delinsCG | ENSP00000343782.3:p.Pro260= | |
| ENST00000520341.1:n.54_55delinsCG | ||
| ENST00000614635.1:c.779_780delinsCG | ENSP00000480325.1:p.Pro260= | |
| NM_000025.2:c.779_780delinsCG | NP_000016.1:p.Pro260= | |
| NM_000025.3:c.779_780delinsCG MANE Select | NP_000016.1:p.Pro260= |