Linked Data
ClinVar Variation Id:
515620
ClinVar RCV Id:
RCV002528669
dbSNP Id:
rs756099489
ExAC:
10:112337259 C / CT
gnomAD v2:
10-112337259-C-CT
gnomAD v3:
10-110577501-C-CT
gnomAD v4:
10-110577501-C-CT
COSMIC:
COSN2374660
MyVariant Identifiers:
chr10:g.112337268dup (hg19)
chr10:g.112337269_112337276delinsTAAAGTAAT (hg19)
chr10:g.112337261_112337262insT (hg19)
chr10:g.112337260_112337261insT (hg19)
chr10:g.112337259_112337260insT (hg19)
chr10:g.110577510dup (hg38)
chr10:g.110577511_110577518delinsTAAAGTAAT (hg38)
chr10:g.110577501_110577502insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110577510dup , CM000672.2:g.110577510dup | GRCh38 |
| NC_000010.10:g.112337268dup , CM000672.1:g.112337268dup | GRCh37 |
| NC_000010.9:g.112327258dup | NCBI36 |
| NG_012217.1:g.14820dup , LRG_774:g.14820dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684988.1:n.403+18dup | ||
| ENST00000687823.1:n.184+18dup | ||
| ENST00000689932.1:n.2333+18dup | ||
| ENST00000691297.1:n.403+18dup | ||
| ENST00000691527.1:n.360+18dup | ||
| ENST00000692792.1:n.389+18dup | ||
| ENST00000361804.5:c.270+18dup MANE Select | ENSP00000354720.5:n.270+18dup | |
| ENST00000361804.4:c.270+18dup | ENSP00000354720.4:n.270+18dup | |
| ENST00000462899.1:n.416+18dup | ||
| NM_005445.3:c.270+18dup , LRG_774t1:c.270+18dup | NP_005436.1:n.270+18dup | |
| NM_005445.4:c.270+18dup MANE Select | NP_005436.1:n.270+18dup |