Linked Data
ClinVar Variation Id:
1070068
ClinVar RCV Id:
RCV001382095
dbSNP Id:
rs1167455690
gnomAD v2:
1-215953252-CTGG-C
gnomAD v4:
1-215779910-CTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779912_215779914del , CM000663.2:g.215779912_215779914del | GRCh38 |
| NC_000001.10:g.215953254_215953256del , CM000663.1:g.215953254_215953256del | GRCh37 |
| NC_000001.9:g.214019877_214019879del | NCBI36 |
| NG_009497.1:g.648484_648486del | |
| NG_009497.2:g.648536_648538del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10869_10871del MANE Select | ENSP00000305941.3:p.Tyr3623Ter | |
| ENST00000674083.1:c.10869_10871del | ENSP00000501296.1:p.Tyr3623Ter | |
| ENST00000307340.7:c.10869_10871del | ENSP00000305941.3:p.Tyr3623Ter | |
| NM_206933.2:c.10869_10871del | NP_996816.2:p.Tyr3623Ter | |
| NM_206933.3:c.10869_10871del | NP_996816.2:p.Tyr3623Ter | |
| NM_206933.4:c.10869_10871del MANE Select | NP_996816.3:p.Tyr3623Ter |