Linked Data
gnomAD v4:
12-12718118-GC-G
COSMIC:
COSM1360002
MyVariant Identifiers:
chr12:g.12871053del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718124del , CM000674.2:g.12718124del | GRCh38 |
| NC_000012.11:g.12871058del , CM000674.1:g.12871058del | GRCh37 |
| NC_000012.10:g.12762325del | NCBI36 |
| NG_016341.1:g.5757del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.285del | ENSP00000507272.1:p.Gly97ValfsTer22 | |
| ENST00000682620.1:n.1631-701del | ||
| ENST00000684771.1:n.585-701del | ||
| ENST00000228872.9:c.285del MANE Select | ENSP00000228872.4:p.Gly97ValfsTer22 | |
| ENST00000228872.8:c.285del | ENSP00000228872.4:p.Gly97ValfsTer22 | |
| ENST00000396340.1:c.285del | ENSP00000379629.1:p.Gly97ValfsTer22 | |
| ENST00000442489.1:c.193+71del | ENSP00000407597.1:n.193+71del | |
| ENST00000477087.1:n.155-701del | ||
| NM_004064.4:c.285del | NP_004055.1:p.Gly97ValfsTer22 | |
| NM_004064.5:c.285del MANE Select | NP_004055.1:p.Gly97ValfsTer22 |