Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956177_24956178delinsGG , CM000670.2:g.24956177_24956178delinsGG | GRCh38 |
| NC_000008.10:g.24813691_24813692delinsGG , CM000670.1:g.24813691_24813692delinsGG | GRCh37 |
| NC_000008.9:g.24869608_24869609delinsGG | NCBI36 |
| NG_008492.1:g.5440_5441delinsCC , LRG_259:g.5440_5441delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.338_339delinsCC MANE Select | NP_006149.2:p.Gln113Pro |
| ENST00000610854.2:c.338_339delinsCC MANE Select | ENSP00000482169.2:p.Gln113Pro |
| NM_006158.4:c.338_339delinsCC , LRG_259t1:c.338_339delinsCC | NP_006149.2:p.Gln113Pro |
| ENST00000610854.1:c.338_339delinsCC | ENSP00000482169.1:p.Gln113Pro |
| ENST00000615973.1:n.544_545delinsCC | |
| ENST00000619417.1:c.338_339delinsCC | ENSP00000483690.1:p.Gln113Pro |