Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013658_25013659insGCC , CM000685.2:g.25013658_25013659insGCC | GRCh38 |
| NC_000023.10:g.25031775_25031776insGCC , CM000685.1:g.25031775_25031776insGCC | GRCh37 |
| NC_000023.9:g.24941696_24941697insGCC | NCBI36 |
| NG_008281.1:g.7291_7292insGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.337_338insGCG MANE Select | ENSP00000368332.4:p.Ala112_Ala113insGly | |
| ENST00000379044.4:c.337_338insGCG | ENSP00000368332.4:p.Ala112_Ala113insGly | |
| NM_139058.2:c.337_338insGCG | NP_620689.1:p.Ala112_Ala113insGly | |
| NM_139058.3:c.337_338insGCG MANE Select | NP_620689.1:p.Ala112_Ala113insGly |