ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92593399_92593401delinsAG , CM000672.2:g.92593399_92593401delinsAG | GRCh38 |
| NC_000010.10:g.94353156_94353158delinsAG , CM000672.1:g.94353156_94353158delinsAG | GRCh37 |
| NC_000010.9:g.94343136_94343138delinsAG | NCBI36 |
| NG_032580.1:g.5332_5334delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.24_26delinsAG MANE Select | ENSP00000260731.3:p.Ala9GlyfsTer15 | |
| ENST00000676621.1:c.24_26delinsAG | ENSP00000503639.1:p.Ala9GlyfsTer15 | |
| ENST00000676647.1:c.-131+1570_-131+1572delinsAG | ENSP00000503394.1:n.-131+1570_-131+1572delinsAG | |
| ENST00000676757.1:c.-130-12866_-130-12864delinsAG | ENSP00000504289.1:n.-130-12866_-130-12864delinsAG | |
| ENST00000677720.1:c.24_26delinsAG | ENSP00000504840.1:p.Ala9GlyfsTer15 | |
| ENST00000260731.4:c.24_26delinsAG | ENSP00000260731.3:p.Ala9GlyfsTer15 | |
| NM_004523.3:c.24_26delinsAG | NP_004514.2:p.Ala9GlyfsTer15 | |
| NM_004523.4:c.24_26delinsAG MANE Select | NP_004514.2:p.Ala9GlyfsTer15 |