Linked Data
ClinVar Variation Id:
282112
ClinVar RCV Id:
RCV000362858
dbSNP Id:
rs886042313
MyVariant Identifiers:
chr11:g.68704145_68704151delinsCA (hg19)
chr11:g.68936677_68936683delinsCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936677_68936683delinsCA , CM000673.2:g.68936677_68936683delinsCA | GRCh38 |
| NC_000011.9:g.68704145_68704151delinsCA , CM000673.1:g.68704145_68704151delinsCA | GRCh37 |
| NC_000011.8:g.68460721_68460727delinsCA | NCBI36 |
| NG_007976.1:g.37827_37833delinsCA , LRG_250:g.37827_37833delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2197_2203delinsCA MANE Select | ENSP00000255078.4:p.Ile733GlnfsTer? | |
| ENST00000674675.1:c.441_447delinsCA | ||
| ENST00000674878.1:c.441_447delinsCA | ||
| ENST00000674955.1:c.*914_*920delinsCA | ENSP00000502463.1:n.*914_*920delinsCA | |
| ENST00000675118.1:c.1685_1691delinsCA | ||
| ENST00000675389.1:n.472_478delinsCA | ||
| ENST00000675615.1:c.2197_2203delinsCA | ENSP00000502413.1:p.Ile733GlnfsTer? | |
| ENST00000675648.1:n.1572_1578delinsCA | ||
| ENST00000675916.1:c.441_447delinsCA | ||
| ENST00000676173.1:n.2942_2948delinsCA | ||
| ENST00000676182.1:c.628_634delinsCA | ||
| ENST00000676228.1:c.*1520_*1526delinsCA | ENSP00000502375.1:n.*1520_*1526delinsCA | |
| ENST00000255078.7:c.2197_2203delinsCA | ENSP00000255078.3:p.Ile733GlnfsTer? | |
| ENST00000539064.5:n.1956_1962delinsCA | ||
| ENST00000543739.5:n.1190_1196delinsCA | ||
| NM_002180.2:c.2197_2203delinsCA , LRG_250t1:c.2197_2203delinsCA | NP_002171.2:p.Ile733GlnfsTer? | |
| XM_005273974.2:c.1186_1192delinsCA | XP_005274031.1:p.Ile396GlnfsTer? | |
| XM_005273975.2:c.1069_1075delinsCA | XP_005274032.1:p.Ile357GlnfsTer? | |
| XM_011544994.1:c.964_970delinsCA | XP_011543296.1:p.Ile322GlnfsTer? | |
| XR_949903.1:n.2299_2305delinsCA | ||
| XM_005273975.3:c.1069_1075delinsCA | XP_005274032.1:p.Ile357GlnfsTer? | |
| XM_017017669.2:c.1186_1192delinsCA | XP_016873158.1:p.Ile396GlnfsTer? | |
| XM_017017670.2:c.1186_1192delinsCA | XP_016873159.1:p.Ile396GlnfsTer? | |
| XR_949903.3:n.2295_2301delinsCA | ||
| NM_002180.3:c.2197_2203delinsCA MANE Select | NP_002171.2:p.Ile733GlnfsTer? |