Linked Data
ClinVar Variation Id:
21315
ClinVar RCV Id:
RCV000020479
dbSNP Id:
rs113994101
MyVariant Identifiers:
chr15:g.89860620dupG (hg19)
chr15:g.89860619_89860620insG (hg19)
chr15:g.89317389dupG (hg38)
chr15:g.89317388_89317389insG (hg38)
PubMed:
PMID:20301791
ERepo:
CA341888/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317389dup , CM000677.2:g.89317389dup | GRCh38 |
| NC_000015.9:g.89860620dup , CM000677.1:g.89860620dup | GRCh37 |
| NC_000015.8:g.87661624dup | NCBI36 |
| NG_008218.1:g.22407dup | |
| NG_011736.1:g.78427dup , LRG_500:g.78427dup | |
| NG_008218.2:g.22407dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3630dup | ENSP00000516154.1:p.Gly1211ArgfsTer6 | |
| ENST00000268124.11:c.3630dup MANE Select | ENSP00000268124.5:p.Gly1211ArgfsTer6 | |
| ENST00000530292.3:c.3330dup | ENSP00000432885.2:n.3330dup | |
| ENST00000635986.2:c.*700dup | ENSP00000490653.2:n.*700dup | |
| ENST00000636774.1:c.*2234dup | ENSP00000489799.1:n.*2234dup | |
| ENST00000637238.1:c.2538dup | ENSP00000490756.1:n.2538dup | |
| ENST00000637264.1:c.2642dup | ||
| ENST00000666746.1:c.3207dup | ||
| ENST00000672071.1:n.4832dup | ||
| ENST00000672695.1:n.1409dup | ||
| ENST00000672923.2:n.3630dup | ||
| ENST00000268124.9:c.3630dup | ENSP00000268124.5:p.Gly1211ArgfsTer6 | |
| ENST00000442287.6:c.3630dup | ENSP00000399851.2:p.Gly1211ArgfsTer6 | |
| ENST00000526671.1:n.440dup | ||
| ENST00000530292.2:c.813dup | ENSP00000432885.1:n.813dup | |
| ENST00000631044.2:c.*3054dup | ENSP00000486730.1:n.*3054dup | |
| NM_001126131.1:c.3630dup | NP_001119603.1:p.Gly1211ArgfsTer6 | |
| NM_002693.2:c.3630dup | NP_002684.1:p.Gly1211ArgfsTer6 | |
| NM_001126131.2:c.3630dup | NP_001119603.1:p.Gly1211ArgfsTer6 | |
| NM_002693.3:c.3630dup MANE Select | NP_002684.1:p.Gly1211ArgfsTer6 |