Linked Data
gnomAD v4:
20-57562830-C-CTTCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562831_57562832insTCGT , CM000682.2:g.57562831_57562832insTCGT | GRCh38 |
| NC_000020.10:g.56137887_56137888insTCGT , CM000682.1:g.56137887_56137888insTCGT | GRCh37 |
| NC_000020.9:g.55571293_55571294insTCGT | NCBI36 |
| NG_008205.1:g.6751_6752insTCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.542_543insTCGT MANE Select | ENSP00000319814.4:p.Glu182ArgfsTer? | |
| ENST00000319441.5:c.542_543insTCGT | ENSP00000319814.4:p.Glu182ArgfsTer? | |
| ENST00000467047.1:n.1752_1753insTCGT | ||
| ENST00000498194.1:n.484_485insTCGT | ||
| NM_002591.3:c.542_543insTCGT | NP_002582.3:p.Glu182ArgfsTer? | |
| XM_011528839.1:c.146_147insTCGT | XP_011527141.1:p.Glu50ArgfsTer? | |
| XM_024451888.1:c.146_147insTCGT | XP_024307656.1:p.Glu50ArgfsTer? | |
| NM_002591.4:c.542_543insTCGT MANE Select | NP_002582.3:p.Glu182ArgfsTer? |