Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275191_80275192insACGGG , CM000672.2:g.80275191_80275192insACGGG | GRCh38 |
| NC_000010.10:g.82034947_82034948insACGGG , CM000672.1:g.82034947_82034948insACGGG | GRCh37 |
| NC_000010.9:g.82024927_82024928insACGGG | NCBI36 |
| NG_008083.1:g.19487_19488insCCCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.776_777insCCCGT MANE Select | ENSP00000361287.3:p.Gly260ProfsTer? | |
| ENST00000372213.7:c.776_777insCCCGT | ENSP00000361287.3:p.Gly260ProfsTer? | |
| ENST00000480845.1:n.8_9insCCCGT | ||
| ENST00000485270.5:n.288_289insCCCGT | ||
| NM_000429.2:c.776_777insCCCGT | NP_000420.1:p.Gly260ProfsTer? | |
| XM_005269842.3:c.776_777insCCCGT | XP_005269899.1:p.Gly260ProfsTer? | |
| XM_005269843.3:c.653_654insCCCGT | XP_005269900.1:p.Gly219ProfsTer? | |
| NM_000429.3:c.776_777insCCCGT MANE Select | NP_000420.1:p.Gly260ProfsTer? |