Linked Data
ClinVar Variation Id:
808716
ClinVar RCV Id:
RCV000997099
dbSNP Id:
rs755624411
ExAC:
2:27535861 CA / C
gnomAD v2:
2-27535861-CA-C
gnomAD v4:
2-27312994-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312995del , CM000664.2:g.27312995del | GRCh38 |
| NC_000002.11:g.27535862del , CM000664.1:g.27535862del | GRCh37 |
| NC_000002.10:g.27389366del | NCBI36 |
| NG_008075.1:g.14570del | |
| NG_033055.1:g.269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.185del MANE Select | ENSP00000369383.1:p.Val62GlyfsTer5 | |
| ENST00000233545.6:c.185del | ENSP00000233545.2:p.Val62GlyfsTer5 | |
| ENST00000357186.10:c.19-223del | ENSP00000349713.6:n.19-223del | |
| ENST00000380044.5:c.185del | ENSP00000369383.1:p.Val62GlyfsTer5 | |
| ENST00000402310.5:c.185del | ENSP00000383955.1:p.Val62GlyfsTer5 | |
| ENST00000402722.5:c.150del | ENSP00000386000.1:p.Cys50TrpfsTer? | |
| ENST00000403262.6:c.185del | ENSP00000385671.1:p.Val62GlyfsTer5 | |
| ENST00000405076.5:c.185del | ENSP00000385175.1:p.Val62GlyfsTer19 | |
| ENST00000405983.5:c.230del | ENSP00000384586.1:p.Val77GlyfsTer5 | |
| ENST00000415514.5:c.228-223del | ENSP00000388043.1:n.228-223del | |
| ENST00000426513.6:c.150del | ENSP00000403824.2:p.Cys50TrpfsTer? | |
| ENST00000428910.5:c.107del | ENSP00000405235.1:p.Val36GlyfsTer5 | |
| ENST00000430991.5:c.115del | ||
| ENST00000616446.1:n.162del | ||
| ENST00000616707.1:n.393del | ||
| ENST00000617583.4:n.211del | ||
| ENST00000621183.4:n.241del | ||
| ENST00000621470.4:n.201del | ||
| ENST00000622003.4:n.358del | ||
| NM_002437.4:c.185del | NP_002428.1:p.Val62GlyfsTer5 | |
| XM_005264326.2:c.185del | XP_005264383.1:p.Val62GlyfsTer5 | |
| XM_005264327.2:c.26del | XP_005264384.1:p.Val9GlyfsTer5 | |
| XM_006712021.2:c.137del | XP_006712084.1:p.Val46GlyfsTer5 | |
| XM_005264326.4:c.185del | XP_005264383.1:p.Val62GlyfsTer5 | |
| XM_006712021.3:c.137del | XP_006712084.1:p.Val46GlyfsTer5 | |
| XM_017004150.1:c.167del | XP_016859639.1:p.Val56GlyfsTer5 | |
| XM_017004151.1:c.137del | XP_016859640.1:p.Val46GlyfsTer5 | |
| XM_017004152.1:c.26del | XP_016859641.1:p.Val9GlyfsTer5 | |
| XM_024452913.1:c.137del | XP_024308681.1:p.Val46GlyfsTer5 | |
| NM_002437.5:c.185del MANE Select | NP_002428.1:p.Val62GlyfsTer5 |