Linked Data
ClinVar Variation Id:
818805
ClinVar RCV Id:
RCV001010764
dbSNP Id:
rs1580993390
gnomAD v4:
5-132589667-CAGAT-C
MyVariant Identifiers:
chr5:g.131925360_131925363del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589672_132589675del , CM000667.2:g.132589672_132589675del | GRCh38 |
| NC_000005.9:g.131925364_131925367del , CM000667.1:g.131925364_131925367del | GRCh37 |
| NC_000005.8:g.131953263_131953266del | NCBI36 |
| NG_021151.1:g.37749_37752del | |
| NG_021151.2:g.37696_37699del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1287_1290del MANE Select | ENSP00000368100.4:p.Ile429MetfsTer3 | |
| ENST00000638452.2:c.990_993del | ENSP00000492349.2:p.Ile330MetfsTer3 | |
| ENST00000638504.1:n.973_976del | ||
| ENST00000638568.2:c.990_993del | ENSP00000491158.2:p.Ile330MetfsTer3 | |
| ENST00000639899.1:n.1806_1809del | ||
| ENST00000640655.2:c.990_993del | ENSP00000491596.2:p.Ile330MetfsTer3 | |
| ENST00000651160.1:c.1287_1290del | ENSP00000498829.1:p.Ile429MetfsTer3 | |
| ENST00000651541.1:c.990_993del | ENSP00000498795.1:p.Ile330MetfsTer3 | |
| ENST00000651658.1:n.1714_1717del | ||
| ENST00000651723.1:c.*1370_*1373del | ENSP00000498237.1:n.*1370_*1373del | |
| ENST00000652016.1:c.1287_1290del | ENSP00000498267.1:p.Ile429MetfsTer3 | |
| ENST00000652485.1:c.1287_1290del | ENSP00000498973.1:p.Ile429MetfsTer3 | |
| ENST00000378823.7:c.1287_1290del | ENSP00000368100.4:p.Ile429MetfsTer3 | |
| ENST00000423956.5:c.1287_1290del | ENSP00000390971.1:p.Ile429MetfsTer3 | |
| ENST00000453394.5:c.1287_1290del | ENSP00000400049.1:p.Ile429MetfsTer3 | |
| ENST00000533482.5:c.*913_*916del | ENSP00000431225.1:n.*913_*916del | |
| NM_005732.3:c.1287_1290del | NP_005723.2:p.Ile429MetfsTer3 | |
| NM_005732.4:c.1287_1290del MANE Select | NP_005723.2:p.Ile429MetfsTer3 |