Linked Data
ClinVar Variation Id:
496309
dbSNP Id:
rs762814289
ExAC:
5:131927550 AT / A
gnomAD v2:
5-131927550-AT-A
gnomAD v3:
5-132591858-AT-A
gnomAD v4:
5-132591858-AT-A
MyVariant Identifiers:
chr5:g.131927560del (hg19)
chr5:g.131927551del (hg19)
chr5:g.132591868del (hg38)
chr5:g.132591859del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132591868del , CM000667.2:g.132591868del | GRCh38 |
| NC_000005.9:g.131927560del , CM000667.1:g.131927560del | GRCh37 |
| NC_000005.8:g.131955459del | NCBI36 |
| NG_021151.1:g.39945del | |
| NG_021151.2:g.39892del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1636-9del MANE Select | ENSP00000368100.4:n.1636-9del | |
| ENST00000638452.2:c.1339-9del | ENSP00000492349.2:n.1339-9del | |
| ENST00000638504.1:n.1322-9del | ||
| ENST00000638568.2:c.1339-9del | ENSP00000491158.2:n.1339-9del | |
| ENST00000639899.1:n.2155-9del | ||
| ENST00000640655.2:c.1339-9del | ENSP00000491596.2:n.1339-9del | |
| ENST00000651160.1:c.1636-9del | ENSP00000498829.1:n.1636-9del | |
| ENST00000651541.1:c.1339-9del | ENSP00000498795.1:n.1339-9del | |
| ENST00000651658.1:n.2063-9del | ||
| ENST00000651723.1:c.*1719-9del | ENSP00000498237.1:n.*1719-9del | |
| ENST00000652016.1:c.1636-9del | ENSP00000498267.1:n.1636-9del | |
| ENST00000652485.1:c.1669-9del | ENSP00000498973.1:n.1669-9del | |
| ENST00000378823.7:c.1636-9del | ENSP00000368100.4:n.1636-9del | |
| ENST00000423956.5:c.1635+462del | ENSP00000390971.1:n.1635+462del | |
| ENST00000434288.1:c.131-9del | ||
| ENST00000453394.5:c.1453-9del | ENSP00000400049.1:n.1453-9del | |
| ENST00000533482.5:c.*1262-9del | ENSP00000431225.1:n.*1262-9del | |
| NM_005732.3:c.1636-9del | NP_005723.2:n.1636-9del | |
| NM_005732.4:c.1636-9del MANE Select | NP_005723.2:n.1636-9del |