Linked Data
dbSNP Id:
rs1166540536
gnomAD v2:
8-117784014-G-GAA
gnomAD v3:
8-116771775-G-GAA
gnomAD v4:
8-116771775-G-GAA
MyVariant Identifiers:
chr8:g.117784014_117784015insAA (hg19)
chr8:g.116771775_116771776insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116771779_116771780dup , CM000670.2:g.116771779_116771780dup | GRCh38 |
| NC_000008.10:g.117784018_117784019dup , CM000670.1:g.117784018_117784019dup | GRCh37 |
| NC_000008.9:g.117853199_117853200dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309822.7:c.687_688dup MANE Select | ENSP00000308332.2:p.Arg230LysfsTer? | |
| ENST00000309822.6:c.687_688dup | ENSP00000308332.2:p.Arg230LysfsTer? | |
| ENST00000517814.1:c.363+1413_363+1414dup | ENSP00000429962.1:n.363+1413_363+1414dup | |
| ENST00000517820.1:c.188+4988_188+4989dup | ENSP00000427767.1:n.188+4988_188+4989dup | |
| ENST00000520733.5:c.45+1413_45+1414dup | ENSP00000429384.1:n.45+1413_45+1414dup | |
| ENST00000521071.1:c.188+4988_188+4989dup | ENSP00000430029.1:n.188+4988_188+4989dup | |
| ENST00000521703.5:c.188+4988_188+4989dup | ENSP00000428455.1:n.188+4988_188+4989dup | |
| ENST00000521974.1:n.593_594dup | ||
| ENST00000524128.1:c.45+1413_45+1414dup | ENSP00000430309.1:n.45+1413_45+1414dup | |
| NM_032334.2:c.687_688dup | NP_115710.2:p.Arg230LysfsTer? | |
| XM_005251080.2:c.363+1413_363+1414dup | XP_005251137.2:n.363+1413_363+1414dup | |
| XR_928356.1:n.411+1413_411+1414dup | ||
| XR_928357.1:n.411+1413_411+1414dup | ||
| NM_032334.3:c.687_688dup MANE Select | NP_115710.2:p.Arg230LysfsTer? |