Linked Data
dbSNP Id:
rs774009041
MyVariant Identifiers:
chrX:g.119581878_119581879insAGGTATAGGTGT (hg19)
chrX:g.120448023_120448024insAGGTATAGGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120448023_120448024insAGGTATAGGTGT , CM000685.2:g.120448023_120448024insAGGTATAGGTGT | GRCh38 |
| NC_000023.10:g.119581878_119581879insAGGTATAGGTGT , CM000685.1:g.119581878_119581879insAGGTATAGGTGT | GRCh37 |
| NC_000023.9:g.119465906_119465907insAGGTATAGGTGT | NCBI36 |
| NG_007995.1:g.26326_26327insACACCTATACCT , LRG_749:g.26326_26327insACACCTATACCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.558_559insACACCTATACCT | ENSP00000516464.1:p.Glu186_Phe187insThrProIlePro | |
| ENST00000200639.9:c.558_559insACACCTATACCT MANE Select | ENSP00000200639.4:p.Glu186_Phe187insThrProIlePro | |
| ENST00000200639.8:c.558_559insACACCTATACCT | ENSP00000200639.4:p.Glu186_Phe187insThrProIlePro | |
| ENST00000371335.4:c.558_559insACACCTATACCT | ENSP00000360386.4:p.Glu186_Phe187insThrProIlePro | |
| ENST00000434600.6:c.558_559insACACCTATACCT | ENSP00000408411.2:p.Glu186_Phe187insThrProIlePro | |
| ENST00000486593.5:c.101_102insACACCTATACCT | ||
| NM_001122606.1:c.558_559insACACCTATACCT , LRG_749t3:c.558_559insACACCTATACCT | NP_001116078.1:p.Glu186_Phe187insThrProIlePro | |
| NM_002294.2:c.558_559insACACCTATACCT , LRG_749t1:c.558_559insACACCTATACCT | NP_002285.1:p.Glu186_Phe187insThrProIlePro | |
| NM_013995.2:c.558_559insACACCTATACCT , LRG_749t2:c.558_559insACACCTATACCT | NP_054701.1:p.Glu186_Phe187insThrProIlePro | |
| NM_002294.3:c.558_559insACACCTATACCT MANE Select | NP_002285.1:p.Glu186_Phe187insThrProIlePro |