Linked Data
ClinVar Variation Id:
1394432
ClinVar RCV Id:
RCV001898527
dbSNP Id:
rs2115593984
gnomAD v4:
7-97853330-AGAGACAAGTAATAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97853333_97853346del , CM000669.2:g.97853333_97853346del | GRCh38 |
| NC_000007.13:g.97482645_97482658del , CM000669.1:g.97482645_97482658del | GRCh37 |
| NC_000007.12:g.97320581_97320594del | NCBI36 |
| NG_033870.1:g.24199_24212del | |
| NG_033870.2:g.80219_80232del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394308.8:c.1281_1294del MANE Select | ENSP00000377845.3:p.Tyr428AlafsTer21 | |
| ENST00000175506.8:c.1281_1294del | ENSP00000175506.4:p.Tyr428AlafsTer21 | |
| ENST00000394308.7:c.1281_1294del | ENSP00000377845.3:p.Tyr428AlafsTer21 | |
| ENST00000394309.7:c.1281_1294del | ENSP00000377846.3:p.Tyr428AlafsTer21 | |
| ENST00000422745.5:c.1218_1231del | ENSP00000414901.1:p.Tyr407AlafsTer21 | |
| ENST00000437628.5:c.1032_1045del | ENSP00000414379.1:p.Tyr345AlafsTer21 | |
| ENST00000444334.5:c.1218_1231del | ENSP00000406994.1:p.Tyr407AlafsTer21 | |
| ENST00000454046.5:c.*149_*162del | ENSP00000401651.1:n.*149_*162del | |
| ENST00000455086.5:c.1032_1045del | ENSP00000408472.1:p.Tyr345AlafsTer21 | |
| ENST00000487714.1:n.339_352del | ||
| NM_001178075.1:c.1218_1231del | NP_001171546.1:p.Tyr407AlafsTer21 | |
| NM_001178076.1:c.1032_1045del | NP_001171547.1:p.Tyr345AlafsTer21 | |
| NM_001178077.1:c.1032_1045del | NP_001171548.1:p.Tyr345AlafsTer21 | |
| NM_001673.4:c.1281_1294del | NP_001664.3:p.Tyr428AlafsTer21 | |
| NM_133436.3:c.1281_1294del | NP_597680.2:p.Tyr428AlafsTer21 | |
| NM_183356.3:c.1281_1294del | NP_899199.2:p.Tyr428AlafsTer21 | |
| NM_001352496.1:c.1281_1294del | NP_001339425.1:p.Tyr428AlafsTer21 | |
| NR_147989.1:n.2984_2997del | ||
| NM_001673.5:c.1281_1294del MANE Select | NP_001664.3:p.Tyr428AlafsTer21 | |
| NM_001178075.2:c.1218_1231del | NP_001171546.1:p.Tyr407AlafsTer21 | |
| NM_001178076.2:c.1032_1045del | NP_001171547.1:p.Tyr345AlafsTer21 | |
| NM_001352496.2:c.1281_1294del | NP_001339425.1:p.Tyr428AlafsTer21 | |
| NM_183356.4:c.1281_1294del | NP_899199.2:p.Tyr428AlafsTer21 |