Linked Data
gnomAD v4:
7-19117129-C-CAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117129_19117130insAG , CM000669.2:g.19117129_19117130insAG | GRCh38 |
| NC_000007.13:g.19156752_19156753insAG , CM000669.1:g.19156752_19156753insAG | GRCh37 |
| NC_000007.12:g.19123277_19123278insAG | NCBI36 |
| NG_008114.1:g.5543_5544insCT | |
| NG_008114.2:g.5543_5544insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.192_193insCT MANE Select | ENSP00000242261.5:p.Glu65LeufsTer? | |
| ENST00000242261.5:c.192_193insCT | ENSP00000242261.5:p.Glu65LeufsTer? | |
| NM_000474.3:c.192_193insCT | NP_000465.1:p.Glu65LeufsTer? | |
| XM_011515496.1:c.192_193insCT | XP_011513798.1:p.Glu65LeufsTer? | |
| NR_149001.1:n.543_544insCT | ||
| NM_000474.4:c.192_193insCT MANE Select | NP_000465.1:p.Glu65LeufsTer? | |
| NR_149001.2:n.507_508insCT |