Linked Data
ClinVar Variation Id:
3270
dbSNP Id:
rs80356649
MyVariant Identifiers:
chr1:g.193111146_193111147insAG (hg19)
chr1:g.193142016_193142017insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142016_193142017insAG , CM000663.2:g.193142016_193142017insAG | GRCh38 |
| NC_000001.10:g.193111146_193111147insAG , CM000663.1:g.193111146_193111147insAG | GRCh37 |
| NC_000001.9:g.191377769_191377770insAG | NCBI36 |
| NG_012691.1:g.25059_25060insAG , LRG_507:g.25059_25060insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.679_680insAG MANE Select | ENSP00000356405.4:p.Arg227LysfsTer31 | |
| ENST00000635846.1:c.679_680insAG | ENSP00000490035.1:p.Arg227LysfsTer? | |
| ENST00000643006.1:c.679_680insAG | ENSP00000496633.1:p.Arg227LysfsTer31 | |
| ENST00000643784.1:c.*155_*156insAG | ENSP00000494944.1:n.*155_*156insAG | |
| ENST00000647662.1:n.580_581insAG | ||
| ENST00000648071.1:c.*655_*656insAG | ENSP00000497513.1:n.*655_*656insAG | |
| ENST00000649606.1:n.692_693insAG | ||
| ENST00000649895.1:n.897_898insAG | ||
| ENST00000650197.1:c.679_680insAG | ENSP00000496929.1:p.Arg227LysfsTer31 | |
| ENST00000367435.3:c.679_680insAG | ENSP00000356405.3:p.Arg227LysfsTer31 | |
| NM_024529.4:c.679_680insAG , LRG_507t1:c.679_680insAG | NP_078805.3:p.Arg227LysfsTer31 | |
| XM_006711537.2:c.679_680insAG | XP_006711600.1:p.Arg227LysfsTer31 | |
| XM_006711537.4:c.679_680insAG | XP_006711600.1:p.Arg227LysfsTer31 | |
| NM_024529.5:c.679_680insAG MANE Select | NP_078805.3:p.Arg227LysfsTer31 |