Linked Data
dbSNP Id:
rs1410957290
gnomAD v2:
1-154544169-C-CGAGA
gnomAD v4:
1-154571693-C-CGAGA
MyVariant Identifiers:
chr1:g.154544169_154544170insGAGA (hg19)
chr1:g.154571693_154571694insGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571693_154571694insGAGA , CM000663.2:g.154571693_154571694insGAGA | GRCh38 |
| NC_000001.10:g.154544169_154544170insGAGA , CM000663.1:g.154544169_154544170insGAGA | GRCh37 |
| NC_000001.9:g.152810793_152810794insGAGA | NCBI36 |
| NG_008027.1:g.8913_8914insGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.870_871insGAGA MANE Select | ENSP00000357461.3:p.Ser291GlufsTer? | |
| ENST00000636034.1:c.870_871insGAGA | ENSP00000489703.1:p.Ser291GlufsTer? | |
| ENST00000637900.1:c.876_877insGAGA | ENSP00000490474.1:p.Ser293GlufsTer? | |
| ENST00000368476.3:c.870_871insGAGA | ENSP00000357461.3:p.Ser291GlufsTer? | |
| NM_000748.2:c.870_871insGAGA | NP_000739.1:p.Ser291GlufsTer? | |
| XM_017000180.2:c.360_361insGAGA | XP_016855669.1:p.Ser121GlufsTer? | |
| XR_001736952.2:n.1122_1123insGAGA | ||
| NM_000748.3:c.870_871insGAGA MANE Select | NP_000739.1:p.Ser291GlufsTer? |