Linked Data
ClinVar Variation Id:
1691640
ClinVar RCV Id:
RCV002255046
dbSNP Id:
rs754431996
ExAC:
17:7915520 GA / G
gnomAD v2:
17-7915520-GA-G
gnomAD v4:
17-8012202-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012203del , CM000679.2:g.8012203del | GRCh38 |
| NC_000017.10:g.7915521del , CM000679.1:g.7915521del | GRCh37 |
| NC_000017.9:g.7856246del | NCBI36 |
| NG_009092.1:g.14534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1809del MANE Select | ENSP00000254854.4:p.Ala604GlnfsTer? | |
| ENST00000254854.4:c.1809del | ENSP00000254854.4:p.Ala604GlnfsTer? | |
| NM_000180.3:c.1809del | NP_000171.1:p.Ala604GlnfsTer? | |
| XM_011523816.1:c.1809del | XP_011522118.1:p.Ala604GlnfsTer? | |
| NM_000180.4:c.1809del MANE Select | NP_000171.1:p.Ala604GlnfsTer? |