Linked Data
ClinVar Variation Id:
189153
dbSNP Id:
rs786204733
gnomAD v2:
11-6412809-A-AT
gnomAD v3:
11-6391579-A-AT
gnomAD v4:
11-6391579-A-AT
MyVariant Identifiers:
chr11:g.6412813dupT (hg19)
chr11:g.6412809_6412810insT (hg19)
chr11:g.6391583dupT (hg38)
chr11:g.6391579_6391580insT (hg38)
PubMed:
PMID:15221801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391583dup , CM000673.2:g.6391583dup | GRCh38 |
| NC_000011.9:g.6412813dup , CM000673.1:g.6412813dup | GRCh37 |
| NC_000011.8:g.6369389dup | NCBI36 |
| NG_011780.1:g.6159dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.518dup MANE Select | ENSP00000340409.4:p.Ser174LeufsTer19 | |
| ENST00000342245.8:c.518dup | ENSP00000340409.4:p.Ser174LeufsTer19 | |
| ENST00000527275.5:c.515dup | ENSP00000435350.1:p.Ser173LeufsTer19 | |
| ENST00000530395.1:c.-95-207dup | ENSP00000431479.1:n.-95-207dup | |
| ENST00000531303.5:c.438+80dup | ENSP00000432625.1:n.438+80dup | |
| ENST00000533123.5:c.518dup | ENSP00000435950.1:p.Ser174LeufsTer19 | |
| ENST00000533196.1:n.375-423dup | ||
| ENST00000534405.5:c.518dup | ENSP00000434353.1:p.Ser174LeufsTer19 | |
| NM_000543.4:c.518dup | NP_000534.3:p.Ser174LeufsTer19 | |
| NM_001007593.2:c.515dup | NP_001007594.2:p.Ser173LeufsTer19 | |
| XM_005253075.3:c.518dup | XP_005253132.1:p.Ser174LeufsTer19 | |
| XM_011520303.1:c.518dup | XP_011518605.1:p.Ser174LeufsTer19 | |
| XM_011520304.1:c.518dup | XP_011518606.1:p.Ser174LeufsTer19 | |
| XR_930886.1:n.816dup | ||
| NM_001318087.1:c.518dup | NP_001305016.1:p.Ser174LeufsTer19 | |
| NM_001318088.1:c.-444dup | NP_001305017.1:n.-444dup | |
| NM_001365135.1:c.518dup | NP_001352064.1:p.Ser174LeufsTer19 | |
| NR_027400.2:n.703dup | ||
| NR_134502.1:n.623+80dup | ||
| XM_011520304.2:c.518dup | XP_011518606.1:p.Ser174LeufsTer19 | |
| XR_001747940.2:n.643dup | ||
| XR_002957158.1:n.643dup | ||
| NM_000543.5:c.518dup MANE Select | NP_000534.3:p.Ser174LeufsTer19 | |
| NM_001007593.3:c.515dup | NP_001007594.2:p.Ser173LeufsTer19 | |
| NM_001318087.2:c.518dup | NP_001305016.1:p.Ser174LeufsTer19 | |
| NM_001318088.2:c.-444dup | NP_001305017.1:n.-444dup | |
| NM_001365135.2:c.518dup | NP_001352064.1:p.Ser174LeufsTer19 | |
| NR_027400.3:n.643dup | ||
| NR_134502.2:n.563+80dup |