Linked Data
gnomAD v4:
2-189565387-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565390_189565391del , CM000664.2:g.189565390_189565391del | GRCh38 |
| NC_000002.11:g.190430116_190430117del , CM000664.1:g.190430116_190430117del | GRCh37 |
| NC_000002.10:g.190138361_190138362del | NCBI36 |
| NG_009027.1:g.20423_20424del , LRG_837:g.20423_20424del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.725_726del MANE Select | ENSP00000261024.3:p.Glu242GlyfsTer3 | |
| ENST00000261024.6:c.725_726del | ENSP00000261024.2:p.Glu242GlyfsTer3 | |
| NM_014585.5:c.725_726del , LRG_837t1:c.725_726del | NP_055400.1:p.Glu242GlyfsTer3 | |
| XM_005246505.1:c.605_606del | XP_005246562.1:p.Glu202GlyfsTer3 | |
| XM_005246505.2:c.605_606del | XP_005246562.1:p.Glu202GlyfsTer3 | |
| XM_017003938.2:c.605_606del | XP_016859427.1:p.Glu202GlyfsTer3 | |
| NM_014585.6:c.725_726del MANE Select | NP_055400.1:p.Glu242GlyfsTer3 |