Linked Data
gnomAD v4:
10-80275098-T-TCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275098_80275099insCC , CM000672.2:g.80275098_80275099insCC | GRCh38 |
| NC_000010.10:g.82034854_82034855insCC , CM000672.1:g.82034854_82034855insCC | GRCh37 |
| NC_000010.9:g.82024834_82024835insCC | NCBI36 |
| NG_008083.1:g.19580_19581insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.869_870insGG MANE Select | ENSP00000361287.3:p.Asp291GlufsTer17 | |
| ENST00000372213.7:c.869_870insGG | ENSP00000361287.3:p.Asp291GlufsTer17 | |
| ENST00000480845.1:n.101_102insGG | ||
| ENST00000485270.5:n.381_382insGG | ||
| NM_000429.2:c.869_870insGG | NP_000420.1:p.Asp291GlufsTer17 | |
| XM_005269842.3:c.869_870insGG | XP_005269899.1:p.Asp291GlufsTer17 | |
| XM_005269843.3:c.746_747insGG | XP_005269900.1:p.Asp250GlufsTer17 | |
| NM_000429.3:c.869_870insGG MANE Select | NP_000420.1:p.Asp291GlufsTer17 |