Linked Data
ClinVar Variation Id:
1513288
ClinVar RCV Id:
RCV002026098
dbSNP Id:
rs1159959038
gnomAD v2:
1-151372479-TCAGTC-T
gnomAD v3:
1-151400003-TCAGTC-T
gnomAD v4:
1-151400003-TCAGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151400005_151400009del , CM000663.2:g.151400005_151400009del | GRCh38 |
| NC_000001.10:g.151372481_151372485del , CM000663.1:g.151372481_151372485del | GRCh37 |
| NC_000001.9:g.149639105_149639109del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.165_169del MANE Select | ENSP00000290541.6:p.Val56ArgfsTer3 | |
| ENST00000290541.6:c.165_169del | ENSP00000290541.6:p.Val56ArgfsTer3 | |
| ENST00000476467.1:n.166_170del | ||
| ENST00000493673.1:n.163_167del | ||
| ENST00000495288.5:n.193_197del | ||
| ENST00000495805.5:n.174_178del | ||
| NM_002796.2:c.165_169del | NP_002787.2:p.Val56ArgfsTer3 | |
| NM_002796.3:c.165_169del MANE Select | NP_002787.2:p.Val56ArgfsTer3 |