Linked Data
ClinVar Variation Id:
377228
dbSNP Id:
rs773348232
ExAC:
7:97483937 T / TA
gnomAD v2:
7-97483937-T-TA
gnomAD v4:
7-97854625-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97854626dup , CM000669.2:g.97854626dup | GRCh38 |
| NC_000007.13:g.97483938dup , CM000669.1:g.97483938dup | GRCh37 |
| NC_000007.12:g.97321874dup | NCBI36 |
| NG_033870.1:g.22917dup | |
| NG_033870.2:g.78937dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394308.8:c.1192dup MANE Select | ENSP00000377845.3:p.Tyr398LeufsTer4 | |
| ENST00000175506.8:c.1192dup | ENSP00000175506.4:p.Tyr398LeufsTer4 | |
| ENST00000394308.7:c.1192dup | ENSP00000377845.3:p.Tyr398LeufsTer4 | |
| ENST00000394309.7:c.1192dup | ENSP00000377846.3:p.Tyr398LeufsTer4 | |
| ENST00000422745.5:c.1129dup | ENSP00000414901.1:p.Tyr377LeufsTer4 | |
| ENST00000437628.5:c.943dup | ENSP00000414379.1:p.Tyr315LeufsTer4 | |
| ENST00000444334.5:c.1129dup | ENSP00000406994.1:p.Tyr377LeufsTer4 | |
| ENST00000454046.5:c.*60dup | ENSP00000401651.1:n.*60dup | |
| ENST00000455086.5:c.943dup | ENSP00000408472.1:p.Tyr315LeufsTer4 | |
| ENST00000487714.1:n.250dup | ||
| NM_001178075.1:c.1129dup | NP_001171546.1:p.Tyr377LeufsTer4 | |
| NM_001178076.1:c.943dup | NP_001171547.1:p.Tyr315LeufsTer4 | |
| NM_001178077.1:c.943dup | NP_001171548.1:p.Tyr315LeufsTer4 | |
| NM_001673.4:c.1192dup | NP_001664.3:p.Tyr398LeufsTer4 | |
| NM_133436.3:c.1192dup | NP_597680.2:p.Tyr398LeufsTer4 | |
| NM_183356.3:c.1192dup | NP_899199.2:p.Tyr398LeufsTer4 | |
| NM_001352496.1:c.1192dup | NP_001339425.1:p.Tyr398LeufsTer4 | |
| NR_147989.1:n.2895dup | ||
| NM_001673.5:c.1192dup MANE Select | NP_001664.3:p.Tyr398LeufsTer4 | |
| NM_001178075.2:c.1129dup | NP_001171546.1:p.Tyr377LeufsTer4 | |
| NM_001178076.2:c.943dup | NP_001171547.1:p.Tyr315LeufsTer4 | |
| NM_001352496.2:c.1192dup | NP_001339425.1:p.Tyr398LeufsTer4 | |
| NM_183356.4:c.1192dup | NP_899199.2:p.Tyr398LeufsTer4 |