Linked Data
ClinVar Variation Id:
65611
dbSNP Id:
rs267606756
gnomAD v2:
6-32007959-G-GT
gnomAD v3:
6-32040182-G-GT
gnomAD v4:
6-32040182-G-GT
COSMIC:
COSM1249567
MyVariant Identifiers:
chr6:g.32007966dupT (hg19)
chr6:g.32007960_32007961insT (hg19)
chr6:g.32007959_32007960insT (hg19)
chr6:g.32040189dupT (hg38)
chr6:g.32040182_32040183insT (hg38)
PubMed:
PMID:20301350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040189dup , CM000668.2:g.32040189dup | GRCh38 |
| NC_000006.11:g.32007966dup , CM000668.1:g.32007966dup | GRCh37 |
| NC_000006.10:g.32115945dup | NCBI36 |
| NG_007941.2:g.6882dup | |
| NG_008337.2:g.74192dup | |
| NG_007941.3:g.6885dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.923dup MANE Select | ENSP00000496625.1:p.Leu308PhefsTer6 | |
| ENST00000418967.6:c.923dup | ENSP00000408860.2:p.Leu308PhefsTer6 | |
| ENST00000435122.3:c.833dup | ENSP00000415043.2:p.Leu278PhefsTer6 | |
| ENST00000479074.5:n.981dup | ||
| ENST00000479730.5:n.1039dup | ||
| ENST00000483041.5:n.1092dup | ||
| ENST00000486063.5:n.919-217dup | ||
| NM_000500.7:c.923dup | NP_000491.4:p.Leu308PhefsTer6 | |
| NM_001128590.3:c.833dup | NP_001122062.3:p.Leu278PhefsTer6 | |
| XM_011514314.1:c.518dup | XP_011512616.1:p.Leu173PhefsTer6 | |
| NM_000500.9:c.923dup MANE Select | NP_000491.4:p.Leu308PhefsTer6 | |
| NM_001368143.1:c.518dup | NP_001355072.1:p.Leu173PhefsTer6 | |
| NM_001368144.1:c.518dup | NP_001355073.1:p.Leu173PhefsTer6 | |
| NM_001128590.4:c.833dup | NP_001122062.3:p.Leu278PhefsTer6 | |
| NM_001368143.2:c.518dup | NP_001355072.1:p.Leu173PhefsTer6 | |
| NM_001368144.2:c.518dup | NP_001355073.1:p.Leu173PhefsTer6 |