UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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_Leu75delinsSerP... | |
| ENST00000238477.5:c.214_224delinsAGTCCCCG | ENSP00000432675.2:p.Gly72_Leu75delinsSerP... | |
| ENST00000476832.1:c.214_224delinsAGTCCCCG | ENSP00000417764.1:p.Gly72_Leu75delinsSerP... | |
| 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 |