Linked Data
gnomAD v2:
1-154544172-C-CGAGAT
gnomAD v4:
1-154571696-C-CGAGAT
MyVariant Identifiers:
chr1:g.154544172_154544173insGAGAT (hg19)
chr1:g.154571696_154571697insGAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571696_154571697insGAGAT , CM000663.2:g.154571696_154571697insGAGAT | GRCh38 |
| NC_000001.10:g.154544172_154544173insGAGAT , CM000663.1:g.154544172_154544173insGAGAT | GRCh37 |
| NC_000001.9:g.152810796_152810797insGAGAT | NCBI36 |
| NG_008027.1:g.8916_8917insGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.873_874insGAGAT MANE Select | ENSP00000357461.3:p.Leu292GlufsTer? | |
| ENST00000636034.1:c.873_874insGAGAT | ENSP00000489703.1:p.Leu292GlufsTer? | |
| ENST00000637900.1:c.879_880insGAGAT | ENSP00000490474.1:p.Leu294GlufsTer? | |
| ENST00000368476.3:c.873_874insGAGAT | ENSP00000357461.3:p.Leu292GlufsTer? | |
| NM_000748.2:c.873_874insGAGAT | NP_000739.1:p.Leu292GlufsTer? | |
| XM_017000180.2:c.363_364insGAGAT | XP_016855669.1:p.Leu122GlufsTer? | |
| XR_001736952.2:n.1125_1126insGAGAT | ||
| NM_000748.3:c.873_874insGAGAT MANE Select | NP_000739.1:p.Leu292GlufsTer? |