Linked Data
ClinVar Variation Id:
88637
ClinVar RCV Id:
RCV000074334
dbSNP Id:
rs879255571
PubMed:
PMID:23746550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67620796dup , CM000678.2:g.67620796dup | GRCh38 |
| NC_000016.9:g.67654699dup , CM000678.1:g.67654699dup | GRCh37 |
| NC_000016.8:g.66212200dup | NCBI36 |
| NG_033892.1:g.63390dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264010.10:c.1186dup MANE Select | ENSP00000264010.4:p.Arg396LysfsTer13 | |
| ENST00000401394.6:c.202dup | ENSP00000384707.1:p.Arg68LysfsTer13 | |
| ENST00000642819.1:c.1186dup | ENSP00000494408.1:p.Arg396LysfsTer13 | |
| ENST00000642943.1:n.2651dup | ||
| ENST00000643892.1:c.1186dup | ENSP00000494358.1:p.Arg396LysfsTer13 | |
| ENST00000644753.1:c.1186dup | ENSP00000493495.1:p.Arg396LysfsTer13 | |
| ENST00000645306.1:c.1186dup | ENSP00000495218.1:p.Arg396LysfsTer13 | |
| ENST00000645409.1:n.2016dup | ||
| ENST00000645699.1:c.1186dup | ENSP00000495348.1:p.Arg396LysfsTer13 | |
| ENST00000646076.1:c.1186dup | ENSP00000494538.1:p.Arg396LysfsTer13 | |
| ENST00000646566.1:n.1670dup | ||
| ENST00000646771.1:c.1186dup | ENSP00000494443.1:p.Arg396LysfsTer13 | |
| ENST00000264010.8:c.1186dup | ENSP00000264010.4:p.Arg396LysfsTer13 | |
| ENST00000401394.5:c.202dup | ENSP00000384707.1:p.Arg68LysfsTer13 | |
| NM_001191022.1:c.202dup | NP_001177951.1:p.Arg68LysfsTer13 | |
| NM_006565.3:c.1186dup | NP_006556.1:p.Arg396LysfsTer13 | |
| XM_005255775.2:c.1186dup | XP_005255832.1:p.Arg396LysfsTer13 | |
| NM_001363916.1:c.1186dup | NP_001350845.1:p.Arg396LysfsTer13 | |
| XM_005255775.4:c.1186dup | XP_005255832.1:p.Arg396LysfsTer13 | |
| XM_017022868.1:c.1186dup | XP_016878357.1:p.Arg396LysfsTer13 | |
| NM_006565.4:c.1186dup MANE Select | NP_006556.1:p.Arg396LysfsTer13 | |
| NM_001191022.2:c.202dup | NP_001177951.1:p.Arg68LysfsTer13 |