Linked Data
dbSNP Id:
rs80359840
MyVariant Identifiers:
chr1:g.43392807_43392808insCGAT (hg19)
chr1:g.42927136_42927137insCGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927136_42927137insCGAT , CM000663.2:g.42927136_42927137insCGAT | GRCh38 |
| NC_000001.10:g.43392807_43392808insCGAT , CM000663.1:g.43392807_43392808insCGAT | GRCh37 |
| NC_000001.9:g.43165394_43165395insCGAT | NCBI36 |
| NG_008232.1:g.37040_37041insATCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.1383_1384insATCG MANE Select | ENSP00000416293.2:p.Glu462IlefsTer16 | |
| ENST00000674545.1:n.2000_2001insATCG | ||
| ENST00000674765.1:c.1030-280_1030-279insATCG | ENSP00000501811.1:n.1030-280_1030-279insA... | |
| ENST00000675112.1:n.1684_1685insATCG | ||
| ENST00000676254.1:n.1832_1833insATCG | ||
| ENST00000426263.7:c.1383_1384insATCG | ENSP00000416293.2:p.Glu462IlefsTer16 | |
| ENST00000475162.3:c.416-159_416-158insATCG | ||
| ENST00000630287.2:c.*698_*699insATCG | ENSP00000486694.1:n.*698_*699insATCG | |
| NM_006516.2:c.1383_1384insATCG | NP_006507.2:p.Glu462IlefsTer16 | |
| NM_006516.3:c.1383_1384insATCG | NP_006507.2:p.Glu462IlefsTer16 | |
| NM_006516.4:c.1383_1384insATCG MANE Select | NP_006507.2:p.Glu462IlefsTer16 |