Linked Data
ClinVar Variation Id:
183318
ClinVar RCV Id:
RCV000162138
dbSNP Id:
rs730882224
MyVariant Identifiers:
chr19:g.50365076_50365077insGTCGATGGCGACCCGTT (hg19)
chr19:g.49861819_49861820insGTCGATGGCGACCCGTT (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861819_49861820insGTCGATGGCGACCCGTT , CM000681.2:g.49861819_49861820insGTCGATGGCGACCCGTT | GRCh38 |
| NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT , CM000681.1:g.50365076_50365077insGTCGATGGCGACCCGTT | GRCh37 |
| NC_000019.8:g.55056888_55056889insGTCGATGGCGACCCGTT | NCBI36 |
| NG_027717.1:g.10747_10748insACGGGTCGCCATCGACA | |
| NG_050666.1:g.17976_17977insGTCGATGGCGACCCGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1251_1252insACGGGTCGCCATCGACA MANE Select | ENSP00000323511.2:p.Arg418ThrfsTer? | |
| ENST00000322344.7:c.1251_1252insACGGGTCGCCATCGACA | ENSP00000323511.2:p.Arg418ThrfsTer? | |
| ENST00000593706.3:n.847_848insACGGGTCGCCATCGACA | ||
| ENST00000593946.5:c.*1178_*1179insACGGGTCGCCATCGACA | ENSP00000468896.1:n.*1178_*1179insACGGGTC... | |
| ENST00000594661.5:n.1752_1753insACGGGTCGCCATCGACA | ||
| ENST00000595081.5:n.78_79insACGGGTCGCCATCGACA | ||
| ENST00000596014.5:c.1251_1252insACGGGTCGCCATCGACA | ENSP00000472300.1:p.Arg418ThrfsTer? | |
| ENST00000599454.5:n.95_96insACGGGTCGCCATCGACA | ||
| ENST00000600573.5:c.1158_1159insACGGGTCGCCATCGACA | ENSP00000469826.1:p.Arg387ThrfsTer? | |
| ENST00000600910.5:c.1189-124_1189-123insACGGGTCGCCATCGACA | ENSP00000473137.1:n.1189-124_1189-123insA... | |
| ENST00000601816.3:n.150_151insACGGGTCGCCATCGACA | ||
| ENST00000625216.2:c.332_333insACGGGTCGCCATCGACA | ENSP00000486898.1:n.332_333insACGGGTCGCCA... | |
| ENST00000627232.2:c.1171_1172insACGGGTCGCCATCGACA | ENSP00000486037.1:n.1171_1172insACGGGTCGC... | |
| ENST00000631020.2:c.1143_1144insACGGGTCGCCATCGACA | ENSP00000486707.1:p.Arg382ThrfsTer? | |
| NM_007254.3:c.1251_1252insACGGGTCGCCATCGACA | NP_009185.2:p.Arg418ThrfsTer? | |
| NM_007254.4:c.1251_1252insACGGGTCGCCATCGACA MANE Select | NP_009185.2:p.Arg418ThrfsTer? |