Linked Data
ClinVar Variation Id:
291163
dbSNP Id:
rs886044671
gnomAD v2:
17-7125607-C-CG
gnomAD v4:
17-7222288-C-CG
MyVariant Identifiers:
chr17:g.7125612dupG (hg19)
chr17:g.7125607_7125608insG (hg19)
chr17:g.7222293dupG (hg38)
ERepo:
CA10607042/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222293dup , CM000679.2:g.7222293dup | GRCh38 |
| NC_000017.10:g.7125612dup , CM000679.1:g.7125612dup | GRCh37 |
| NC_000017.9:g.7066336dup | NCBI36 |
| NG_007975.1:g.7460dup | |
| NG_008391.2:g.2762dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.869dup MANE Select | ENSP00000349297.5:p.Ile291HisfsTer7 | |
| ENST00000322910.9:c.*824dup | ENSP00000325395.5:n.*824dup | |
| ENST00000350303.9:c.803dup | ENSP00000344152.5:p.Ile269HisfsTer7 | |
| ENST00000356839.9:c.869dup | ENSP00000349297.5:p.Ile291HisfsTer7 | |
| ENST00000543245.6:c.938dup | ENSP00000438689.2:p.Ile314HisfsTer7 | |
| ENST00000577191.5:n.1041dup | ||
| ENST00000581378.5:c.587dup | ||
| ENST00000582379.1:n.253dup | ||
| NM_000018.3:c.869dup | NP_000009.1:p.Ile291HisfsTer7 | |
| NM_001033859.2:c.803dup | NP_001029031.1:p.Ile269HisfsTer7 | |
| NM_001270447.1:c.938dup | NP_001257376.1:p.Ile314HisfsTer7 | |
| NM_001270448.1:c.641dup | NP_001257377.1:p.Ile215HisfsTer7 | |
| XM_006721516.2:c.869dup | XP_006721579.2:p.Ile291HisfsTer7 | |
| XM_011523829.1:c.869dup | XP_011522131.1:p.Ile291HisfsTer7 | |
| XM_011523830.1:c.869dup | XP_011522132.1:p.Ile291HisfsTer7 | |
| XR_934021.1:n.976dup | ||
| XR_934022.1:n.976dup | ||
| XR_934023.1:n.976dup | ||
| XM_006721516.3:c.869dup | XP_006721579.2:p.Ile291HisfsTer7 | |
| XM_011523829.2:c.869dup | XP_011522131.1:p.Ile291HisfsTer7 | |
| XM_011523830.2:c.869dup | XP_011522132.1:p.Ile291HisfsTer7 | |
| XM_024450741.1:c.869dup | XP_024306509.1:p.Ile291HisfsTer7 | |
| XR_934021.2:n.928dup | ||
| XR_934022.2:n.928dup | ||
| XR_934023.2:n.928dup | ||
| NM_000018.4:c.869dup MANE Select | NP_000009.1:p.Ile291HisfsTer7 | |
| NM_001033859.3:c.803dup | NP_001029031.1:p.Ile269HisfsTer7 | |
| NM_001270447.2:c.938dup | NP_001257376.1:p.Ile314HisfsTer7 | |
| NM_001270448.2:c.641dup | NP_001257377.1:p.Ile215HisfsTer7 |