Linked Data
ClinVar Variation Id:
376013
ClinVar RCV Id:
RCV000418995
dbSNP Id:
rs1057519745
MyVariant Identifiers:
chr11:g.32417909_32417910insACCGTACA (hg19)
chr11:g.32396363_32396364insACCGTACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396363_32396364insACCGTACA , CM000673.2:g.32396363_32396364insACCGTACA | GRCh38 |
| NC_000011.9:g.32417909_32417910insACCGTACA , CM000673.1:g.32417909_32417910insACCGTACA | GRCh37 |
| NC_000011.8:g.32374485_32374486insACCGTACA | NCBI36 |
| NG_009272.1:g.44178_44179insTGTACGGT , LRG_525:g.44178_44179insTGTACGGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1106_1107insTGTACGGT | ENSP00000331327.5:p.Ala370ValfsTer? | |
| ENST00000379077.9:c.*341_*342insTGTACGGT | ENSP00000368368.5:n.*341_*342insTGTACGGT | |
| ENST00000379079.8:c.506_507insTGTACGGT | ENSP00000368370.2:p.Ala170ValfsTer? | |
| ENST00000448076.9:c.1157_1158insTGTACGGT | ENSP00000413452.5:p.Ala387ValfsTer? | |
| ENST00000452863.10:c.1157_1158insTGTACGGT MANE Select | ENSP00000415516.5:p.Ala387ValfsTer? | |
| ENST00000526685.2:n.611_612insTGTACGGT | ||
| ENST00000639563.3:c.1106_1107insTGTACGGT | ENSP00000492269.3:p.Ala370ValfsTer? | |
| ENST00000639907.2:n.300_301insTGTACGGT | ||
| ENST00000640146.2:c.482_483insTGTACGGT | ENSP00000491984.2:p.Ala162ValfsTer? | |
| ENST00000650861.1:n.1738_1739insTGTACGGT | ||
| ENST00000651459.1:c.35+3584_35+3585insTGTACGGT | ||
| ENST00000651668.1:n.94_95insTGTACGGT | ||
| ENST00000651794.1:n.900_901insTGTACGGT | ||
| ENST00000651819.1:n.82_83insTGTACGGT | ||
| ENST00000652579.1:n.317_318insTGTACGGT | ||
| ENST00000652724.1:n.347_348insTGTACGGT | ||
| ENST00000332351.7:c.1142_1143insTGTACGGT | ENSP00000331327.3:p.Ala382ValfsTer? | |
| ENST00000379077.7:c.*341_*342insTGTACGGT | ENSP00000368368.3:n.*341_*342insTGTACGGT | |
| ENST00000379079.6:c.506_507insTGTACGGT | ENSP00000368370.2:p.Ala170ValfsTer? | |
| ENST00000448076.7:c.1142_1143insTGTACGGT | ENSP00000413452.3:p.Ala382ValfsTer? | |
| ENST00000452863.7:c.1091_1092insTGTACGGT | ENSP00000415516.3:p.Ala365ValfsTer? | |
| ENST00000526685.1:c.-32_-31insTGTACGGT | ENSP00000436292.1:n.-32_-31insTGTACGGT | |
| ENST00000527882.5:c.213_214insTGTACGGT | ||
| ENST00000530998.5:c.455_456insTGTACGGT | ENSP00000435307.1:p.Ala153ValfsTer? | |
| NM_000378.4:c.1091_1092insTGTACGGT | NP_000369.3:p.Ala365ValfsTer? | |
| NM_001198551.1:c.506_507insTGTACGGT , LRG_525t2:c.506_507insTGTACGGT | NP_001185480.1:p.Ala170ValfsTer? | |
| NM_001198552.1:c.455_456insTGTACGGT | NP_001185481.1:p.Ala153ValfsTer? | |
| NM_024424.3:c.1142_1143insTGTACGGT | NP_077742.2:p.Ala382ValfsTer? | |
| NM_024426.4:c.1142_1143insTGTACGGT | NP_077744.3:p.Ala382ValfsTer? | |
| NM_000378.5:c.1106_1107insTGTACGGT | NP_000369.4:p.Ala370ValfsTer? | |
| NM_024424.4:c.1157_1158insTGTACGGT | NP_077742.3:p.Ala387ValfsTer? | |
| NM_024426.5:c.1157_1158insTGTACGGT | NP_077744.4:p.Ala387ValfsTer? | |
| NM_001367854.1:c.-32_-31insTGTACGGT | NP_001354783.1:n.-32_-31insTGTACGGT | |
| NR_160306.1:n.1489_1490insTGTACGGT | ||
| NM_000378.6:c.1106_1107insTGTACGGT | NP_000369.4:p.Ala370ValfsTer? | |
| NM_001198552.2:c.455_456insTGTACGGT | NP_001185481.1:p.Ala153ValfsTer? | |
| NM_024424.5:c.1157_1158insTGTACGGT | NP_077742.3:p.Ala387ValfsTer? | |
| NM_024426.6:c.1157_1158insTGTACGGT MANE Select | NP_077744.4:p.Ala387ValfsTer? |