Linked Data
ClinVar Variation Id:
2780121
ClinVar RCV Id:
RCV003665526
dbSNP Id:
rs769360935
ExAC:
7:97482647 CAAGT / C
gnomAD v2:
7-97482647-CAAGT-C
gnomAD v3:
7-97853335-CAAGT-C
gnomAD v4:
7-97853335-CAAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97853338_97853341del , CM000669.2:g.97853338_97853341del | GRCh38 |
| NC_000007.13:g.97482650_97482653del , CM000669.1:g.97482650_97482653del | GRCh37 |
| NC_000007.12:g.97320586_97320589del | NCBI36 |
| NG_033870.1:g.24204_24207del | |
| NG_033870.2:g.80224_80227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394308.8:c.1286_1289del MANE Select | ENSP00000377845.3:p.Tyr429CysfsTer7 | |
| ENST00000175506.8:c.1286_1289del | ENSP00000175506.4:p.Tyr429CysfsTer7 | |
| ENST00000394308.7:c.1286_1289del | ENSP00000377845.3:p.Tyr429CysfsTer7 | |
| ENST00000394309.7:c.1286_1289del | ENSP00000377846.3:p.Tyr429CysfsTer7 | |
| ENST00000422745.5:c.1223_1226del | ENSP00000414901.1:p.Tyr408CysfsTer7 | |
| ENST00000437628.5:c.1037_1040del | ENSP00000414379.1:p.Tyr346CysfsTer7 | |
| ENST00000444334.5:c.1223_1226del | ENSP00000406994.1:p.Tyr408CysfsTer7 | |
| ENST00000454046.5:c.*154_*157del | ENSP00000401651.1:n.*154_*157del | |
| ENST00000455086.5:c.1037_1040del | ENSP00000408472.1:p.Tyr346CysfsTer7 | |
| ENST00000487714.1:n.344_347del | ||
| NM_001178075.1:c.1223_1226del | NP_001171546.1:p.Tyr408CysfsTer7 | |
| NM_001178076.1:c.1037_1040del | NP_001171547.1:p.Tyr346CysfsTer7 | |
| NM_001178077.1:c.1037_1040del | NP_001171548.1:p.Tyr346CysfsTer7 | |
| NM_001673.4:c.1286_1289del | NP_001664.3:p.Tyr429CysfsTer7 | |
| NM_133436.3:c.1286_1289del | NP_597680.2:p.Tyr429CysfsTer7 | |
| NM_183356.3:c.1286_1289del | NP_899199.2:p.Tyr429CysfsTer7 | |
| NM_001352496.1:c.1286_1289del | NP_001339425.1:p.Tyr429CysfsTer7 | |
| NR_147989.1:n.2989_2992del | ||
| NM_001673.5:c.1286_1289del MANE Select | NP_001664.3:p.Tyr429CysfsTer7 | |
| NM_001178075.2:c.1223_1226del | NP_001171546.1:p.Tyr408CysfsTer7 | |
| NM_001178076.2:c.1037_1040del | NP_001171547.1:p.Tyr346CysfsTer7 | |
| NM_001352496.2:c.1286_1289del | NP_001339425.1:p.Tyr429CysfsTer7 | |
| NM_183356.4:c.1286_1289del | NP_899199.2:p.Tyr429CysfsTer7 |