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:
221973
ClinVar RCV Id:
RCV000207427
dbSNP Id:
rs869025304
MyVariant Identifiers:
chrX:g.148582523_148582524delinsCCAGCTATACGG (hg19)
chrX:g.149500992_149500993delinsCCAGCTATACGG (hg38)
PubMed:
PMID:26762690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149500992_149500993delinsCCAGCTATACGG , CM000685.2:g.149500992_149500993delinsCCAGCTATACGG | GRCh38 |
| NC_000023.10:g.148582523_148582524delinsCCAGCTATACGG , CM000685.1:g.148582523_148582524delinsCCAGCTATACGG | GRCh37 |
| NC_000023.9:g.148390428_148390429delinsCCAGCTATACGG | NCBI36 |
| NG_011900.3:g.9342_9343delinsCCGTATAGCTGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.463_464delinsCCGTATAGCTGG MANE Select | ENSP00000339801.6:p.Phe155ProfsTer12 | |
| ENST00000651111.1:c.-171_-170delinsCCGTATAGCTGG | ENSP00000498395.1:n.-171_-170delinsCCGTAT... | |
| ENST00000340855.10:c.463_464delinsCCGTATAGCTGG | ENSP00000339801.6:p.Phe155ProfsTer12 | |
| ENST00000370441.8:c.463_464delinsCCGTATAGCTGG | ENSP00000359470.4:p.Phe155ProfsTer12 | |
| ENST00000422081.6:c.-171_-170delinsCCGTATAGCTGG | ENSP00000477056.1:n.-171_-170delinsCCGTAT... | |
| ENST00000441880.1:n.114-13895_114-13894delinsCCGTATAGCTGG | ||
| ENST00000464251.5:c.389_390delinsCCGTATAGCTGG | ENSP00000428980.1:n.389_390delinsCCGTATAG... | |
| ENST00000466323.5:c.463_464delinsCCGTATAGCTGG | ENSP00000418264.1:p.Phe155ProfsTer12 | |
| ENST00000490775.5:n.122_123delinsCCGTATAGCTGG | ||
| ENST00000523759.5:n.577_578delinsCCGTATAGCTGG | ||
| NM_000202.6:c.463_464delinsCCGTATAGCTGG | NP_000193.1:p.Phe155ProfsTer12 | |
| NM_001166550.2:c.193_194delinsCCGTATAGCTGG | NP_001160022.1:p.Phe65ProfsTer12 | |
| NM_006123.4:c.463_464delinsCCGTATAGCTGG | NP_006114.1:p.Phe155ProfsTer12 | |
| NR_104128.1:n.680_681delinsCCGTATAGCTGG | ||
| NM_000202.7:c.463_464delinsCCGTATAGCTGG | NP_000193.1:p.Phe155ProfsTer12 | |
| NM_001166550.3:c.193_194delinsCCGTATAGCTGG | NP_001160022.1:p.Phe65ProfsTer12 | |
| NM_000202.8:c.463_464delinsCCGTATAGCTGG MANE Select | NP_000193.1:p.Phe155ProfsTer12 | |
| NM_001166550.4:c.193_194delinsCCGTATAGCTGG | NP_001160022.1:p.Phe65ProfsTer12 | |
| NM_006123.5:c.463_464delinsCCGTATAGCTGG | NP_006114.1:p.Phe155ProfsTer12 | |
| NR_104128.2:n.632_633delinsCCGTATAGCTGG |