Linked Data
ClinVar Variation Id:
1003485
ClinVar RCV Id:
RCV001300045
dbSNP Id:
rs770443137
ExAC:
17:46804237 TC / T
gnomAD v2:
17-46804237-TC-T
gnomAD v4:
17-48726875-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726877del , CM000679.2:g.48726877del | GRCh38 |
| NC_000017.10:g.46804239del , CM000679.1:g.46804239del | GRCh37 |
| NC_000017.9:g.44159238del | NCBI36 |
| NG_033789.1:g.6874del , LRG_771:g.6874del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.769del MANE Select | ENSP00000290295.8:p.Glu257SerfsTer22 | |
| ENST00000290295.7:c.769del | ENSP00000290295.7:p.Glu257SerfsTer22 | |
| NM_006361.5:c.769del , LRG_771t1:c.769del | NP_006352.2:p.Glu257SerfsTer22 | |
| NM_006361.6:c.769del MANE Select | NP_006352.2:p.Glu257SerfsTer22 |