Linked Data
ClinVar Variation Id:
209135
ClinVar RCV Id:
RCV001378978
dbSNP Id:
rs749798211
gnomAD v2:
1-17331312-CCAGGCTGGGGAAG-C
gnomAD v3:
1-17004817-CCAGGCTGGGGAAG-C
gnomAD v4:
1-17004817-CCAGGCTGGGGAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17004822_17004834del , CM000663.2:g.17004822_17004834del | GRCh38 |
| NC_000001.10:g.17331317_17331329del , CM000663.1:g.17331317_17331329del | GRCh37 |
| NC_000001.9:g.17203904_17203916del | NCBI36 |
| NG_009054.1:g.12099_12111del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.348-9_351del | ||
| ENST00000326735.12:c.348-9_351del | ||
| ENST00000341676.9:c.348-9_351del | ||
| ENST00000452699.5:c.348-9_351del | ||
| ENST00000508222.5:c.82-9_85del | ||
| ENST00000509619.1:c.325-9_328del | ||
| ENST00000510069.5:c.274-9_277del | ||
| ENST00000511957.5:c.60-9_63del | ||
| ENST00000617114.4:c.-499-9_-496del | ||
| NM_001141973.2:c.348-9_351del | ||
| NM_001141974.2:c.348-9_351del | ||
| NM_022089.3:c.348-9_351del | ||
| XM_005245809.1:c.348-9_351del | ||
| XM_005245810.1:c.348-9_351del | ||
| XM_005245811.1:c.348-9_351del | ||
| XM_005245812.1:c.348-9_351del | ||
| XM_005245813.1:c.348-9_351del | ||
| XM_005245815.1:c.348-9_351del | ||
| XM_006710512.1:c.348-9_351del | ||
| XM_006710513.1:c.348-9_351del | ||
| XM_011541128.1:c.348-9_351del | ||
| XM_011541129.1:c.348-9_351del | ||
| XM_017000844.1:c.348-9_351del | ||
| XM_017000845.1:c.348-9_351del | ||
| XM_017000846.1:c.348-9_351del | ||
| XM_017000847.1:c.348-9_351del | ||
| XM_017000848.1:c.348-9_351del | ||
| XM_017000849.1:c.348-9_351del | ||
| XM_017000850.1:c.348-9_351del | ||
| NM_022089.4:c.348-9_351del | ||
| NM_001141973.3:c.348-9_351del | ||
| NM_001141974.3:c.348-9_351del |