Linked Data
ClinVar Variation Id:
100132
dbSNP Id:
rs79080341
ExAC:
8:105393479 TG / T
gnomAD v2:
8-105393479-TG-T
gnomAD v3:
8-104381251-TG-T
gnomAD v4:
8-104381251-TG-T
MyVariant Identifiers:
chr8:g.105393480del (hg19)
chr8:g.104381253del (hg38)
chr8:g.104381252del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104381253del , CM000670.2:g.104381253del | GRCh38 |
| NC_000008.10:g.105393481del , CM000670.1:g.105393481del | GRCh37 |
| NC_000008.9:g.105462657del | NCBI36 |
| NG_008840.1:g.90798del | |
| NG_008840.2:g.90798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1506del MANE Select | ENSP00000276651.2:p.Arg503GlufsTer2 | |
| ENST00000351513.6:c.1506del | ENSP00000276651.2:p.Arg503GlufsTer2 | |
| ENST00000520483.5:n.410del | ||
| ENST00000520806.1:n.160del | ||
| ENST00000521372.1:n.338del | ||
| ENST00000521601.1:n.260del | ||
| ENST00000533874.1:c.74-1409del | ||
| NM_001385.2:c.1506del | NP_001376.1:p.Arg503GlufsTer2 | |
| XM_005250818.2:c.1614del | XP_005250875.1:p.Arg539GlufsTer2 | |
| XM_006716518.2:c.1455del | XP_006716581.1:p.Arg486GlufsTer2 | |
| XM_005250818.3:c.1614del | XP_005250875.1:p.Arg539GlufsTer2 | |
| XM_006716518.3:c.1455del | XP_006716581.1:p.Arg486GlufsTer2 | |
| XM_024447087.1:c.1614del | XP_024302855.1:p.Arg539GlufsTer2 | |
| XR_001745489.1:n.2105del | ||
| XR_001745490.2:n.1997del | ||
| NM_001385.3:c.1506del MANE Select | NP_001376.1:p.Arg503GlufsTer2 |