Linked Data
ClinVar Variation Id:
183018
ClinVar RCV Id:
RCV000161140
dbSNP Id:
rs730882123
MyVariant Identifiers:
chr9:g.101983953_101983963delinsCGGGGACT (hg19)
chr9:g.99221671_99221681delinsCGGGGACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221671_99221681delinsCGGGGACT , CM000671.2:g.99221671_99221681delinsCGGGGACT | GRCh38 |
| NC_000009.11:g.101983953_101983963delinsCGGGGACT , CM000671.1:g.101983953_101983963delinsCGGGGACT | GRCh37 |
| NC_000009.10:g.101023774_101023784delinsCGGGGACT | NCBI36 |
| NG_008928.1:g.5284_5294delinsAGTCCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.214_224delinsAGTCCCCG MANE Select | ENSP00000417764.1:p.Gly72_Leu75delinsSerProArg | |
| ENST00000238477.5:c.214_224delinsAGTCCCCG | ENSP00000432675.2:p.Gly72_Leu75delinsSerProArg | |
| ENST00000476832.1:c.214_224delinsAGTCCCCG | ENSP00000417764.1:p.Gly72_Leu75delinsSerProArg | |
| NM_033087.3:c.214_224delinsAGTCCCCG | NP_149078.1:p.Gly72_Leu75delinsSerProArg | |
| NR_024532.1:n.284_294delinsAGTCCCCG | ||
| NM_033087.4:c.214_224delinsAGTCCCCG MANE Select | NP_149078.1:p.Gly72_Leu75delinsSerProArg | |
| NR_024532.2:n.262_272delinsAGTCCCCG |