Linked Data
ClinVar Variation Id:
532836
ClinVar RCV Id:
RCV000639745
dbSNP Id:
rs767780037
ExAC:
5:151202374 TCTC / T
gnomAD v2:
5-151202374-TCTC-T
gnomAD v3:
5-151822813-TCTC-T
gnomAD v4:
5-151822813-TCTC-T
COSMIC:
COSM4585649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822817_151822819del , CM000667.2:g.151822817_151822819del | GRCh38 |
| NC_000005.9:g.151202378_151202380del , CM000667.1:g.151202378_151202380del | GRCh37 |
| NC_000005.8:g.151182571_151182573del | NCBI36 |
| NG_011764.1:g.107021_107023del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.1207_1209del MANE Select | ENSP00000274576.5:p.Glu403del | |
| ENST00000274576.8:c.1207_1209del | ENSP00000274576.4:p.Glu403del | |
| ENST00000455880.2:c.1231_1233del | ENSP00000411593.2:p.Glu411del | |
| ENST00000462581.6:c.*965_*967del | ENSP00000430595.1:n.*965_*967del | |
| NM_000171.3:c.1207_1209del | NP_000162.2:p.Glu403del | |
| NM_001146040.1:c.1231_1233del | NP_001139512.1:p.Glu411del | |
| NM_001292000.1:c.958_960del | NP_001278929.1:p.Glu320del | |
| NM_000171.4:c.1207_1209del MANE Select | NP_000162.2:p.Glu403del | |
| NM_001146040.2:c.1231_1233del | NP_001139512.1:p.Glu411del | |
| NM_001292000.2:c.958_960del | NP_001278929.1:p.Glu320del |