Linked Data
ClinVar Variation Id:
3485
ClinVar RCV Id:
RCV000003654
dbSNP Id:
rs587776574
PubMed:
PMID:1654525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32399968del , CM000673.2:g.32399968del | GRCh38 |
| NC_000011.9:g.32421514del , CM000673.1:g.32421514del | GRCh37 |
| NC_000011.8:g.32378090del | NCBI36 |
| NG_009272.1:g.40575del , LRG_525:g.40575del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1043del | ENSP00000331327.5:p.Gly348ValfsTer15 | |
| ENST00000379077.9:c.*278del | ENSP00000368368.5:n.*278del | |
| ENST00000379079.8:c.443del | ENSP00000368370.2:p.Gly148ValfsTer15 | |
| ENST00000448076.9:c.1094del | ENSP00000413452.5:p.Gly365ValfsTer15 | |
| ENST00000452863.10:c.1094del MANE Select | ENSP00000415516.5:p.Gly365ValfsTer15 | |
| ENST00000526685.2:n.548del | ||
| ENST00000639563.3:c.1043del | ENSP00000492269.3:p.Gly348ValfsTer15 | |
| ENST00000639907.2:n.237del | ||
| ENST00000640146.2:c.419del | ENSP00000491984.2:p.Gly140ValfsTer15 | |
| ENST00000651459.1:c.16del | ||
| ENST00000651794.1:n.837del | ||
| ENST00000652579.1:n.254del | ||
| ENST00000652724.1:n.284del | ||
| ENST00000332351.7:c.1079del | ENSP00000331327.3:p.Gly360ValfsTer15 | |
| ENST00000379077.7:c.*278del | ENSP00000368368.3:n.*278del | |
| ENST00000379079.6:c.443del | ENSP00000368370.2:p.Gly148ValfsTer15 | |
| ENST00000448076.7:c.1079del | ENSP00000413452.3:p.Gly360ValfsTer15 | |
| ENST00000452863.7:c.1028del | ENSP00000415516.3:p.Gly343ValfsTer15 | |
| ENST00000526685.1:c.-95del | ENSP00000436292.1:n.-95del | |
| ENST00000527775.1:c.332del | ENSP00000435351.1:p.Gly111ValfsTer15 | |
| ENST00000527882.5:c.150del | ||
| ENST00000530998.5:c.392del | ENSP00000435307.1:p.Gly131ValfsTer15 | |
| NM_000378.4:c.1028del | NP_000369.3:p.Gly343ValfsTer15 | |
| NM_001198551.1:c.443del , LRG_525t2:c.443del | NP_001185480.1:p.Gly148ValfsTer15 | |
| NM_001198552.1:c.392del | NP_001185481.1:p.Gly131ValfsTer15 | |
| NM_024424.3:c.1079del | NP_077742.2:p.Gly360ValfsTer15 | |
| NM_024426.4:c.1079del | NP_077744.3:p.Gly360ValfsTer15 | |
| NM_000378.5:c.1043del | NP_000369.4:p.Gly348ValfsTer15 | |
| NM_024424.4:c.1094del | NP_077742.3:p.Gly365ValfsTer15 | |
| NM_024426.5:c.1094del | NP_077744.4:p.Gly365ValfsTer15 | |
| NM_001367854.1:c.-95del | NP_001354783.1:n.-95del | |
| NR_160306.1:n.1426del | ||
| NM_000378.6:c.1043del | NP_000369.4:p.Gly348ValfsTer15 | |
| NM_001198552.2:c.392del | NP_001185481.1:p.Gly131ValfsTer15 | |
| NM_024424.5:c.1094del | NP_077742.3:p.Gly365ValfsTer15 | |
| NM_024426.6:c.1094del MANE Select | NP_077744.4:p.Gly365ValfsTer15 |