ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16053747_16053748delinsGG , CM000663.2:g.16053747_16053748delinsGG | GRCh38 |
| NC_000001.10:g.16380242_16380243delinsGG , CM000663.1:g.16380242_16380243delinsGG | GRCh37 |
| NC_000001.9:g.16252829_16252830delinsGG | NCBI36 |
| NG_013079.1:g.14996_14997delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1731_1732delinsGG | ENSP00000507062.1:p.Lys578Glu | |
| ENST00000682793.1:c.1731_1732delinsGG | ENSP00000506910.1:p.Lys578Glu | |
| ENST00000682838.1:c.*1473_*1474delinsGG | ENSP00000507652.1:n.*1473_*1474delinsGG | |
| ENST00000683578.1:c.1731_1732delinsGG | ENSP00000507430.1:p.Lys578Glu | |
| ENST00000683606.1:n.1337_1338delinsGG | ||
| ENST00000683661.1:n.3266_3267delinsGG | ||
| ENST00000684324.1:c.1731_1732delinsGG | ENSP00000507937.1:p.Lys578Glu | |
| ENST00000684545.1:c.1731_1732delinsGG | ENSP00000506733.1:p.Lys578Glu | |
| ENST00000684624.1:n.1108_1109delinsGG | ||
| ENST00000684714.1:c.1707+24_1707+25delinsGG | ENSP00000506861.1:n.1707+24_1707+25delinsGG | |
| ENST00000684731.1:n.1083+1336_1083+1337delinsGG | ||
| ENST00000375679.9:c.1731_1732delinsGG MANE Select | ENSP00000364831.5:p.Lys578Glu | |
| ENST00000375667.7:c.1224_1225delinsGG | ENSP00000364819.3:p.Lys409Glu | |
| ENST00000375679.8:c.1731_1732delinsGG | ENSP00000364831.4:p.Lys578Glu | |
| ENST00000431772.1:c.198_199delinsGG | ENSP00000389344.1:p.Lys67Glu | |
| ENST00000619181.4:c.1293+57_1293+58delinsGG | ENSP00000483866.1:n.1293+57_1293+58delinsGG | |
| NM_000085.4:c.1731_1732delinsGG | NP_000076.2:p.Lys578Glu | |
| NM_001165945.2:c.1224_1225delinsGG | NP_001159417.2:p.Lys409Glu | |
| XM_011540619.1:c.1572_1573delinsGG | XP_011538921.1:p.Lys525Glu | |
| XM_011540621.1:c.1080_1081delinsGG | XP_011538923.1:p.Lys361Glu | |
| NM_000085.5:c.1731_1732delinsGG MANE Select | NP_000076.2:p.Lys578Glu |