Linked Data
ClinVar Variation Id:
403017
ClinVar RCV Id:
RCV000455622
dbSNP Id:
rs752059822
ExAC:
6:33377480 A / ATC
gnomAD v2:
6-33377480-A-ATC
gnomAD v3:
6-33409703-A-ATC
gnomAD v4:
6-33409703-A-ATC
COSMIC:
COSN18757096
MyVariant Identifiers:
chr6:g.33377482_33377483dupCT (hg19)
chr6:g.33377483_33377484insCT (hg19)
chr6:g.33377484delinsCTG (hg19)
chr6:g.33377482_33377483insTC (hg19)
chr6:g.33377481_33377482insCT (hg19)
chr6:g.33377480_33377481insTC (hg19)
chr6:g.33409705_33409706dupCT (hg38)
chr6:g.33409706_33409707insCT (hg38)
chr6:g.33409705_33409706insTC (hg38)
chr6:g.33409704_33409705insCT (hg38)
chr6:g.33409703_33409704insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33409705_33409706dup , CM000668.2:g.33409705_33409706dup | GRCh38 |
| NC_000006.11:g.33377482_33377483dup , CM000668.1:g.33377482_33377483dup | GRCh37 |
| NC_000006.10:g.33485460_33485461dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428849.7:c.*15_*16dup MANE Select | ENSP00000393963.2:n.*15_*16dup | |
| ENST00000428849.6:c.*15_*16dup | ENSP00000393963.2:n.*15_*16dup | |
| NM_002263.3:c.*15_*16dup | NP_002254.2:n.*15_*16dup | |
| XM_011514585.1:c.*100_*101dup | XP_011512887.1:n.*100_*101dup | |
| XM_011514586.1:c.*15_*16dup | XP_011512888.1:n.*15_*16dup | |
| XM_011514587.1:c.*15_*16dup | XP_011512889.1:n.*15_*16dup | |
| XM_011514587.2:c.*15_*16dup | XP_011512889.1:n.*15_*16dup | |
| NM_002263.4:c.*15_*16dup MANE Select | NP_002254.2:n.*15_*16dup |