Linked Data
ClinVar Variation Id:
550508
dbSNP Id:
rs1554901983
MyVariant Identifiers:
chr11:g.17388225_17388226insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17388225_17388226insAG , CM000673.2:g.17388225_17388226insAG | GRCh38 |
| NC_000011.9:g.17409772_17409773insAG , CM000673.1:g.17409772_17409773insAG | GRCh37 |
| NC_000011.8:g.17366348_17366349insAG | NCBI36 |
| NG_012446.1:g.5434_5435insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-213-150_-213-149insCT | ENSP00000436479.2:n.-213-150_-213-149insCT | |
| ENST00000682350.1:c.-16-380_-16-379insCT | ENSP00000508090.1:n.-16-380_-16-379insCT | |
| ENST00000682764.1:c.-16-380_-16-379insCT | ENSP00000506780.1:n.-16-380_-16-379insCT | |
| ENST00000339994.5:c.-135_-134insCT MANE Select | ENSP00000345708.4:n.-135_-134insCT | |
| ENST00000339994.4:c.-135_-134insCT | ENSP00000345708.4:n.-135_-134insCT | |
| ENST00000526912.1:c.-75-150_-75-149insCT | ENSP00000432729.1:n.-75-150_-75-149insCT | |
| ENST00000528731.1:c.-16-380_-16-379insCT | ENSP00000434755.1:n.-16-380_-16-379insCT | |
| ENST00000528992.1:c.33-150_33-149insCT | ||
| NM_000525.3:c.-135_-134insCT | NP_000516.3:n.-135_-134insCT | |
| NM_001166290.1:c.-16-380_-16-379insCT | NP_001159762.1:n.-16-380_-16-379insCT | |
| XM_006718226.2:c.-16-380_-16-379insCT | XP_006718289.1:n.-16-380_-16-379insCT | |
| XR_930867.1:n.24_25insCT | ||
| XM_006718226.3:c.-16-380_-16-379insCT | XP_006718289.1:n.-16-380_-16-379insCT | |
| XM_017017680.1:c.-16-380_-16-379insCT | XP_016873169.1:n.-16-380_-16-379insCT | |
| NM_001166290.2:c.-16-380_-16-379insCT | NP_001159762.1:n.-16-380_-16-379insCT | |
| NM_001377296.1:c.-75-150_-75-149insCT | NP_001364225.1:n.-75-150_-75-149insCT | |
| NM_001377297.1:c.-16-380_-16-379insCT | NP_001364226.1:n.-16-380_-16-379insCT | |
| NM_000525.4:c.-135_-134insCT MANE Select | NP_000516.3:n.-135_-134insCT |