Linked Data
ClinVar Variation Id:
24867
ClinVar RCV Id:
RCV001387140
dbSNP Id:
rs377767376
COSMIC:
COSM5945985
MyVariant Identifiers:
chr18:g.48604765dupA (hg19)
chr18:g.48604765_48604766insA (hg19)
chr18:g.51078395dupA (hg38)
chr18:g.51078395_51078396insA (hg38)
PubMed:
PMID:18178612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078395dup , CM000680.2:g.51078395dup | GRCh38 |
| NC_000018.9:g.48604765dup , CM000680.1:g.48604765dup | GRCh37 |
| NC_000018.8:g.46858763dup | NCBI36 |
| NG_013013.2:g.115356dup , LRG_318:g.115356dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588860.6:c.1587dup | ENSP00000465878.2:p.His530ThrfsTer? | |
| ENST00000589076.6:c.1587dup | ENSP00000466934.2:p.His530ThrfsTer? | |
| ENST00000589941.2:c.1587dup | ENSP00000465874.2:p.His530ThrfsTer? | |
| ENST00000590061.2:c.1587dup | ENSP00000464772.2:p.His530ThrfsTer? | |
| ENST00000593223.2:c.*1584dup | ENSP00000466118.2:n.*1584dup | |
| ENST00000611848.2:c.*239dup | ENSP00000478613.2:n.*239dup | |
| ENST00000684953.1:n.3602dup | ||
| ENST00000685090.1:n.3517dup | ||
| ENST00000685232.1:n.1808dup | ||
| ENST00000688574.1:n.1695dup | ||
| ENST00000691124.1:n.4548dup | ||
| ENST00000342988.8:c.1587dup MANE Select | ENSP00000341551.3:p.His530ThrfsTer? | |
| ENST00000342988.7:c.1587dup | ENSP00000341551.3:p.His530ThrfsTer? | |
| ENST00000398417.6:c.1587dup | ENSP00000381452.1:p.His530ThrfsTer? | |
| ENST00000586253.1:n.309dup | ||
| ENST00000588745.5:c.1299dup | ENSP00000464901.1:p.His434ThrfsTer? | |
| ENST00000591126.5:n.3588dup | ||
| ENST00000592186.5:c.1234dup | ENSP00000468611.1:n.1234dup | |
| ENST00000611848.1:c.900dup | ||
| NM_005359.5:c.1587dup , LRG_318t1:c.1587dup | NP_005350.1:p.His530ThrfsTer? | |
| NM_005359.6:c.1587dup MANE Select | NP_005350.1:p.His530ThrfsTer? |