Linked Data
ClinVar Variation Id:
557601
dbSNP Id:
rs769859976
gnomAD v4:
5-149978083-CT-C
COSMIC:
COSM1435112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978090del , CM000667.2:g.149978090del | GRCh38 |
| NC_000005.9:g.149357653del , CM000667.1:g.149357653del | GRCh37 |
| NC_000005.8:g.149337846del | NCBI36 |
| NG_007147.2:g.19208del , LRG_684:g.19208del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.670del | ||
| ENST00000286298.5:c.438del MANE Select | ENSP00000286298.4:p.Phe146LeufsTer26 | |
| ENST00000286298.4:c.438del | ENSP00000286298.4:p.Phe146LeufsTer26 | |
| ENST00000503336.1:c.111del | ENSP00000426053.1:p.Phe37LeufsTer26 | |
| NM_000112.3:c.438del , LRG_684t1:c.438del | NP_000103.2:p.Phe146LeufsTer26 | |
| XM_017009191.2:c.438del | XP_016864680.1:p.Phe146LeufsTer26 | |
| NM_000112.4:c.438del MANE Select | NP_000103.2:p.Phe146LeufsTer26 |