Linked Data
ClinVar Variation Id:
403004
ClinVar RCV Id:
RCV000455512
dbSNP Id:
rs3831942
ExAC:
1:154842199 GGCT / G
gnomAD v3:
1-154869723-GGCT-G
gnomAD v4:
1-154869723-GGCT-G
COSMIC:
COSM1319923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154869764_154869766del , CM000663.2:g.154869764_154869766del | GRCh38 |
| NC_000001.10:g.154842240_154842242del , CM000663.1:g.154842240_154842242del | GRCh37 |
| NC_000001.9:g.153108864_153108866del | NCBI36 |
| NG_016807.2:g.5553_5555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271915.9:c.239_241del MANE Select | ENSP00000271915.3:p.Gln80del | |
| ENST00000271915.8:c.239_241del | ENSP00000271915.3:p.Gln80del | |
| ENST00000618040.4:c.239_241del | ENSP00000481848.1:p.Gln80del | |
| NM_001204087.1:c.239_241del | NP_001191016.1:p.Gln80del | |
| NM_002249.5:c.239_241del | NP_002240.3:p.Gln80del | |
| NM_002249.6:c.239_241del MANE Select | NP_002240.3:p.Gln80del | |
| NM_001204087.2:c.239_241del | NP_001191016.1:p.Gln80del |