Linked Data
ClinVar Variation Id:
654483
ClinVar RCV Id:
RCV000810455
dbSNP Id:
rs1580993404
gnomAD v4:
5-132589671-TAGATG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589676_132589680del , CM000667.2:g.132589676_132589680del | GRCh38 |
| NC_000005.9:g.131925368_131925372del , CM000667.1:g.131925368_131925372del | GRCh37 |
| NC_000005.8:g.131953267_131953271del | NCBI36 |
| NG_021151.1:g.37753_37757del | |
| NG_021151.2:g.37700_37704del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1291_1295del MANE Select | ENSP00000368100.4:p.Glu431LysfsTer3 | |
| ENST00000638452.2:c.994_998del | ENSP00000492349.2:p.Glu332LysfsTer3 | |
| ENST00000638504.1:n.977_981del | ||
| ENST00000638568.2:c.994_998del | ENSP00000491158.2:p.Glu332LysfsTer3 | |
| ENST00000639899.1:n.1810_1814del | ||
| ENST00000640655.2:c.994_998del | ENSP00000491596.2:p.Glu332LysfsTer3 | |
| ENST00000651160.1:c.1291_1295del | ENSP00000498829.1:p.Glu431LysfsTer3 | |
| ENST00000651541.1:c.994_998del | ENSP00000498795.1:p.Glu332LysfsTer3 | |
| ENST00000651658.1:n.1718_1722del | ||
| ENST00000651723.1:c.*1374_*1378del | ENSP00000498237.1:n.*1374_*1378del | |
| ENST00000652016.1:c.1291_1295del | ENSP00000498267.1:p.Glu431LysfsTer3 | |
| ENST00000652485.1:c.1291_1295del | ENSP00000498973.1:p.Glu431LysfsTer3 | |
| ENST00000378823.7:c.1291_1295del | ENSP00000368100.4:p.Glu431LysfsTer3 | |
| ENST00000423956.5:c.1291_1295del | ENSP00000390971.1:p.Glu431LysfsTer3 | |
| ENST00000453394.5:c.1291_1295del | ENSP00000400049.1:p.Glu431LysfsTer3 | |
| ENST00000533482.5:c.*917_*921del | ENSP00000431225.1:n.*917_*921del | |
| NM_005732.3:c.1291_1295del | NP_005723.2:p.Glu431LysfsTer3 | |
| NM_005732.4:c.1291_1295del MANE Select | NP_005723.2:p.Glu431LysfsTer3 |