Linked Data
ClinVar Variation Id:
197756
ClinVar RCV Id:
RCV000724351
dbSNP Id:
rs797044755
MyVariant Identifiers:
chr17:g.63156654_63156655delinsGG (hg19)
chr17:g.65160536_65160537delinsGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65160536_65160537delinsGG , CM000679.2:g.65160536_65160537delinsGG | GRCh38 |
| NC_000017.10:g.63156654_63156655delinsGG , CM000679.1:g.63156654_63156655delinsGG | GRCh37 |
| NC_000017.9:g.60587116_60587117delinsGG | NCBI36 |
| NG_013021.1:g.28199_28200delinsGG | |
| NG_013021.2:g.28199_28200delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262406.10:c.313_314delinsGG MANE Select | ENSP00000262406.9:p.Thr105Gly | |
| ENST00000635833.1:c.313_314delinsGG | ENSP00000490658.1:p.Thr105Gly | |
| ENST00000262406.9:c.313_314delinsGG | ENSP00000262406.9:p.Thr105Gly | |
| ENST00000443584.7:c.313_314delinsGG | ENSP00000405814.3:p.Thr105Gly | |
| ENST00000449996.7:c.313_314delinsGG | ENSP00000396329.3:p.Thr105Gly | |
| ENST00000577186.1:n.262_263delinsGG | ||
| ENST00000581175.5:n.330_331delinsGG | ||
| ENST00000584234.5:c.313_314delinsGG | ENSP00000463410.1:p.Thr105Gly | |
| NM_001081955.2:c.313_314delinsGG | NP_001075424.1:p.Thr105Gly | |
| NM_001165933.1:c.313_314delinsGG | NP_001159405.1:p.Thr105Gly | |
| NM_003835.3:c.313_314delinsGG | NP_003826.2:p.Thr105Gly | |
| NM_003835.4:c.313_314delinsGG MANE Select | NP_003826.2:p.Thr105Gly | |
| NM_001081955.3:c.313_314delinsGG | NP_001075424.1:p.Thr105Gly | |
| NM_001165933.2:c.313_314delinsGG | NP_001159405.1:p.Thr105Gly |