Linked Data
dbSNP Id:
rs1427558500
gnomAD v2:
1-43396338-G-GATCTC
gnomAD v4:
1-42930667-G-GATCTC
MyVariant Identifiers:
chr1:g.43396338_43396339insATCTC (hg19)
chr1:g.42930667_42930668insATCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930667_42930668insATCTC , CM000663.2:g.42930667_42930668insATCTC | GRCh38 |
| NC_000001.10:g.43396338_43396339insATCTC , CM000663.1:g.43396338_43396339insATCTC | GRCh37 |
| NC_000001.9:g.43168925_43168926insATCTC | NCBI36 |
| NG_008232.1:g.33509_33510insGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.474_475insGAGAT MANE Select | ENSP00000416293.2:p.Leu159GlufsTer? | |
| ENST00000674765.1:c.474_475insGAGAT | ENSP00000501811.1:p.Leu159GlufsTer? | |
| ENST00000675112.1:n.497_498insGAGAT | ||
| ENST00000676254.1:n.923_924insGAGAT | ||
| ENST00000426263.7:c.474_475insGAGAT | ENSP00000416293.2:p.Leu159GlufsTer? | |
| ENST00000439722.2:c.353_354insGAGAT | ENSP00000395521.2:n.353_354insGAGAT | |
| ENST00000475162.3:c.373_374insGAGAT | ||
| ENST00000625233.2:n.682_683insGAGAT | ||
| ENST00000630287.2:c.474_475insGAGAT | ENSP00000486694.1:p.Leu159GlufsTer25 | |
| NM_006516.2:c.474_475insGAGAT | NP_006507.2:p.Leu159GlufsTer? | |
| NM_006516.3:c.474_475insGAGAT | NP_006507.2:p.Leu159GlufsTer? | |
| NM_006516.4:c.474_475insGAGAT MANE Select | NP_006507.2:p.Leu159GlufsTer? |