Linked Data
ClinVar Variation Id:
375412
ClinVar RCV Id:
RCV000416531
dbSNP Id:
rs1057519491
MyVariant Identifiers:
chr8:g.82583247_82583251dupAGCCC (hg19)
chr8:g.82583246_82583247insAGCCC (hg19)
chr8:g.81671012_81671016dupAGCCC (hg38)
chr8:g.81671011_81671012insAGCCC (hg38)
PubMed:
PMID:26416544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81671013_81671017dup , CM000670.2:g.81671013_81671017dup | GRCh38 |
| NC_000008.10:g.82583248_82583252dup , CM000670.1:g.82583248_82583252dup | GRCh37 |
| NC_000008.9:g.82745803_82745807dup | NCBI36 |
| NG_015829.1:g.20339_20343dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256108.10:c.489_493dup MANE Select | ENSP00000256108.5:p.Ser165TrpfsTer10 | |
| ENST00000256108.9:c.489_493dup | ENSP00000256108.5:p.Ser165TrpfsTer10 | |
| ENST00000311489.8:c.457+2825_457+2829dup | ENSP00000311803.4:n.457+2825_457+2829dup | |
| ENST00000449740.6:c.666_670dup | ENSP00000408526.2:p.Ser224TrpfsTer10 | |
| ENST00000518188.5:c.*137_*141dup | ENSP00000428812.1:n.*137_*141dup | |
| ENST00000519964.5:c.465_469dup | ENSP00000429322.1:p.Ser157TrpfsTer10 | |
| ENST00000520065.1:n.613_617dup | ||
| ENST00000521360.5:c.384_388dup | ENSP00000430283.1:p.Ser130TrpfsTer10 | |
| ENST00000521979.5:c.*145_*149dup | ENSP00000428425.1:n.*145_*149dup | |
| ENST00000523710.5:n.559_563dup | ||
| ENST00000523942.5:c.562_566dup | ||
| NM_001144878.1:c.666_670dup | NP_001138350.1:p.Ser224TrpfsTer10 | |
| NM_001144879.1:c.457+2825_457+2829dup | NP_001138351.1:n.457+2825_457+2829dup | |
| NM_005536.3:c.489_493dup | NP_005527.1:p.Ser165TrpfsTer10 | |
| NM_005536.4:c.489_493dup MANE Select | NP_005527.1:p.Ser165TrpfsTer10 | |
| NM_001144878.2:c.666_670dup | NP_001138350.1:p.Ser224TrpfsTer10 | |
| NM_001144879.2:c.457+2825_457+2829dup | NP_001138351.1:n.457+2825_457+2829dup |