Linked Data
ClinVar Variation Id:
376010
ClinVar RCV Id:
RCV000444609
dbSNP Id:
rs1057519744
MyVariant Identifiers:
chr5:g.170837546_170837547insCCTG (hg19)
chr5:g.171410542_171410543insCCTG (hg38)
PubMed:
PMID:19657110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171410542_171410543insCCTG , CM000667.2:g.171410542_171410543insCCTG | GRCh38 |
| NC_000005.9:g.170837546_170837547insCCTG , CM000667.1:g.170837546_170837547insCCTG | GRCh37 |
| NC_000005.8:g.170770151_170770152insCCTG | NCBI36 |
| NG_016018.1:g.27839_27840insCCTG , LRG_458:g.27839_27840insCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296930.10:c.862_863insCCTG MANE Select | ENSP00000296930.5:p.Trp288SerfsTer12 | |
| ENST00000518587.2:n.1056_1057insCCTG | ||
| ENST00000521260.2:n.1240_1241insCCTG | ||
| ENST00000521672.6:c.670_671insCCTG | ENSP00000429485.2:p.Trp224SerfsTer12 | |
| ENST00000676504.1:n.1608_1609insCCTG | ||
| ENST00000676589.1:c.949_950insCCTG | ENSP00000503283.1:p.Trp317SerfsTer12 | |
| ENST00000676613.1:c.*1609_*1610insCCTG | ENSP00000503767.1:n.*1609_*1610insCCTG | |
| ENST00000676625.1:n.3279_3280insCCTG | ||
| ENST00000677297.1:c.349_350insCCTG | ENSP00000504016.1:p.Trp117SerfsTer12 | |
| ENST00000677325.1:c.670_671insCCTG | ENSP00000503781.1:p.Trp224SerfsTer12 | |
| ENST00000677357.1:c.895_896insCCTG | ENSP00000504740.1:p.Trp299SerfsTer12 | |
| ENST00000677467.1:n.2287_2288insCCTG | ||
| ENST00000677600.1:n.2180_2181insCCTG | ||
| ENST00000677672.1:n.2285_2286insCCTG | ||
| ENST00000677682.1:n.2192_2193insCCTG | ||
| ENST00000677741.1:n.2128_2129insCCTG | ||
| ENST00000677904.1:n.1138_1139insCCTG | ||
| ENST00000677907.1:c.583_584insCCTG | ENSP00000504308.1:p.Trp195SerfsTer12 | |
| ENST00000678186.1:n.2332_2333insCCTG | ||
| ENST00000678267.1:c.*1963_*1964insCCTG | ENSP00000504107.1:n.*1963_*1964insCCTG | |
| ENST00000678280.1:c.*847_*848insCCTG | ENSP00000503235.1:n.*847_*848insCCTG | |
| ENST00000678774.1:c.*338_*339insCCTG | ENSP00000503150.1:n.*338_*339insCCTG | |
| ENST00000679190.1:c.*45_*46insCCTG | ENSP00000503408.1:n.*45_*46insCCTG | |
| ENST00000296930.9:c.862_863insCCTG | ENSP00000296930.5:p.Trp288SerfsTer12 | |
| ENST00000351986.10:c.775_776insCCTG | ENSP00000341168.6:p.Trp259SerfsTer12 | |
| ENST00000517671.5:c.862_863insCCTG | ENSP00000428755.1:p.Trp288SerfsTer12 | |
| ENST00000524204.1:n.298_299insCCTG | ||
| NM_002520.6:c.862_863insCCTG , LRG_458t1:c.862_863insCCTG | NP_002511.1:p.Trp288SerfsTer12 | |
| NM_199185.3:c.775_776insCCTG | NP_954654.1:p.Trp259SerfsTer12 | |
| XM_011534564.1:c.670_671insCCTG | XP_011532866.1:p.Trp224SerfsTer12 | |
| NM_001355006.1:c.862_863insCCTG | NP_001341935.1:p.Trp288SerfsTer12 | |
| NM_001355007.1:c.670_671insCCTG | NP_001341936.1:p.Trp224SerfsTer12 | |
| NM_001355010.1:c.481_482insCCTG | NP_001341939.1:p.Trp161SerfsTer12 | |
| NR_149149.1:n.979_980insCCTG | ||
| NM_001355006.2:c.862_863insCCTG | NP_001341935.1:p.Trp288SerfsTer12 | |
| NM_001355007.2:c.670_671insCCTG | NP_001341936.1:p.Trp224SerfsTer12 | |
| NM_001355010.2:c.481_482insCCTG | NP_001341939.1:p.Trp161SerfsTer12 | |
| NM_002520.7:c.862_863insCCTG MANE Select | NP_002511.1:p.Trp288SerfsTer12 | |
| NM_199185.4:c.775_776insCCTG | NP_954654.1:p.Trp259SerfsTer12 | |
| NR_149149.2:n.834_835insCCTG |