Linked Data
ClinVar Variation Id:
417734
ClinVar RCV Id:
RCV000477723
dbSNP Id:
rs1060505022
PubMed:
PMID:28301481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119091156del , CM000670.2:g.119091156del | GRCh38 |
| NC_000008.10:g.120103395del , CM000670.1:g.120103395del | GRCh37 |
| NC_000008.9:g.120172576del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332843.3:c.228del MANE Select | ENSP00000332723.2:p.Gly77GlufsTer? | |
| ENST00000332843.2:c.228del | ENSP00000332723.2:p.Gly77GlufsTer? | |
| ENST00000521788.1:n.315del | ||
| NM_006438.3:c.228del | NP_006429.2:p.Gly77GlufsTer? | |
| XM_005250756.2:c.21del | XP_005250813.1:p.Gly8GlufsTer? | |
| XM_011516795.1:c.21del | XP_011515097.1:p.Gly8GlufsTer? | |
| NM_001324095.1:c.21del | NP_001311024.1:p.Gly8GlufsTer? | |
| NM_006438.4:c.228del | NP_006429.2:p.Gly77GlufsTer? | |
| XM_005250756.3:c.21del | XP_005250813.1:p.Gly8GlufsTer? | |
| NM_006438.5:c.228del MANE Select | NP_006429.2:p.Gly77GlufsTer? | |
| NM_001324095.2:c.21del | NP_001311024.1:p.Gly8GlufsTer? |