Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956435_24956438delinsGGAG , CM000670.2:g.24956435_24956438delinsGGAG | GRCh38 |
| NC_000008.10:g.24813949_24813952delinsGGAG , CM000670.1:g.24813949_24813952delinsGGAG | GRCh37 |
| NC_000008.9:g.24869866_24869869delinsGGAG | NCBI36 |
| NG_008492.1:g.5180_5183delinsCTCC , LRG_259:g.5180_5183delinsCTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.78_81delinsCTCC MANE Select | ENSP00000482169.2:p.Ile26= | |
| ENST00000610854.1:c.78_81delinsCTCC | ENSP00000482169.1:p.Ile26= | |
| ENST00000615973.1:n.284_287delinsCTCC | ||
| ENST00000619417.1:c.78_81delinsCTCC | ENSP00000483690.1:p.Ile26= | |
| NM_006158.4:c.78_81delinsCTCC , LRG_259t1:c.78_81delinsCTCC | NP_006149.2:p.Ile26= | |
| NM_006158.5:c.78_81delinsCTCC MANE Select | NP_006149.2:p.Ile26= |