Linked Data
dbSNP Id:
rs774101891
ExAC:
8:117783757 G / GAAC
gnomAD v2:
8-117783757-G-GAAC
gnomAD v4:
8-116771518-G-GAAC
MyVariant Identifiers:
chr8:g.117783757_117783758insAAC (hg19)
chr8:g.116771518_116771519insAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116771520_116771522dup , CM000670.2:g.116771520_116771522dup | GRCh38 |
| NC_000008.10:g.117783759_117783761dup , CM000670.1:g.117783759_117783761dup | GRCh37 |
| NC_000008.9:g.117852940_117852942dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309822.7:c.428_430dup MANE Select | ENSP00000308332.2:p.Asn143_Thr144insAsn | |
| ENST00000309822.6:c.428_430dup | ENSP00000308332.2:p.Asn143_Thr144insAsn | |
| ENST00000517814.1:c.363+1154_363+1156dup | ENSP00000429962.1:n.363+1154_363+1156dup | |
| ENST00000517820.1:c.188+4729_188+4731dup | ENSP00000427767.1:n.188+4729_188+4731dup | |
| ENST00000520733.5:c.45+1154_45+1156dup | ENSP00000429384.1:n.45+1154_45+1156dup | |
| ENST00000521071.1:c.188+4729_188+4731dup | ENSP00000430029.1:n.188+4729_188+4731dup | |
| ENST00000521703.5:c.188+4729_188+4731dup | ENSP00000428455.1:n.188+4729_188+4731dup | |
| ENST00000521974.1:n.334_336dup | ||
| ENST00000524128.1:c.45+1154_45+1156dup | ENSP00000430309.1:n.45+1154_45+1156dup | |
| NM_032334.2:c.428_430dup | NP_115710.2:p.Asn143_Thr144insAsn | |
| XM_005251080.2:c.363+1154_363+1156dup | XP_005251137.2:n.363+1154_363+1156dup | |
| XR_928356.1:n.411+1154_411+1156dup | ||
| XR_928357.1:n.411+1154_411+1156dup | ||
| NM_032334.3:c.428_430dup MANE Select | NP_115710.2:p.Asn143_Thr144insAsn |