Linked Data
ClinVar Variation Id:
21579
ClinVar RCV Id:
RCV000020769
dbSNP Id:
rs199422158
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197122238del , CM000663.2:g.197122238del | GRCh38 |
| NC_000001.10:g.197091368del , CM000663.1:g.197091368del | GRCh37 |
| NC_000001.9:g.195357991del | NCBI36 |
| NG_015867.1:g.29458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1705del | ||
| ENST00000367409.9:c.3663del MANE Select | ENSP00000356379.4:p.Arg1221SerfsTer13 | |
| ENST00000680112.1:n.1719del | ||
| ENST00000680265.1:c.3663del | ENSP00000505384.1:p.Arg1221SerfsTer13 | |
| ENST00000680710.1:c.3663del | ENSP00000506676.1:p.Arg1221SerfsTer13 | |
| ENST00000681879.1:c.3663del | ENSP00000505363.1:p.Arg1221SerfsTer13 | |
| ENST00000294732.11:c.3663del | ENSP00000294732.7:p.Arg1221SerfsTer13 | |
| ENST00000367408.5:c.1413del | ENSP00000356378.1:p.Arg471SerfsTer13 | |
| ENST00000367409.8:c.3663del | ENSP00000356379.4:p.Arg1221SerfsTer13 | |
| ENST00000612785.1:c.562-19590del | ENSP00000479244.1:n.562-19590del | |
| NM_001206846.1:c.3663del | NP_001193775.1:p.Arg1221SerfsTer13 | |
| NM_018136.4:c.3663del | NP_060606.3:p.Arg1221SerfsTer13 | |
| NM_018136.5:c.3663del MANE Select | NP_060606.3:p.Arg1221SerfsTer13 | |
| NM_001206846.2:c.3663del | NP_001193775.1:p.Arg1221SerfsTer13 |