Linked Data
ClinVar Variation Id:
21576
ClinVar RCV Id:
RCV000020766
dbSNP Id:
rs199422156
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197122506_197122510del , CM000663.2:g.197122506_197122510del | GRCh38 |
| NC_000001.10:g.197091636_197091640del , CM000663.1:g.197091636_197091640del | GRCh37 |
| NC_000001.9:g.195358259_195358263del | NCBI36 |
| NG_015867.1:g.29186_29190del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.1519_1523del | ||
| ENST00000367409.9:c.3477_3481del MANE Select | ENSP00000356379.4:p.Ala1160MetfsTer23 | |
| ENST00000680112.1:n.1533_1537del | ||
| ENST00000680265.1:c.3477_3481del | ENSP00000505384.1:p.Ala1160MetfsTer23 | |
| ENST00000680710.1:c.3477_3481del | ENSP00000506676.1:p.Ala1160MetfsTer23 | |
| ENST00000681879.1:c.3477_3481del | ENSP00000505363.1:p.Ala1160MetfsTer23 | |
| ENST00000294732.11:c.3477_3481del | ENSP00000294732.7:p.Ala1160MetfsTer23 | |
| ENST00000367408.5:c.1227_1231del | ENSP00000356378.1:p.Ala410MetfsTer23 | |
| ENST00000367409.8:c.3477_3481del | ENSP00000356379.4:p.Ala1160MetfsTer23 | |
| ENST00000612785.1:c.562-19862_562-19858del | ENSP00000479244.1:n.562-19862_562-19858de... | |
| NM_001206846.1:c.3477_3481del | NP_001193775.1:p.Ala1160MetfsTer23 | |
| NM_018136.4:c.3477_3481del | NP_060606.3:p.Ala1160MetfsTer23 | |
| NM_018136.5:c.3477_3481del MANE Select | NP_060606.3:p.Ala1160MetfsTer23 | |
| NM_001206846.2:c.3477_3481del | NP_001193775.1:p.Ala1160MetfsTer23 |