Linked Data
ClinVar Variation Id:
581080
ClinVar RCV Id:
RCV000704804
dbSNP Id:
rs746860401
MyVariant Identifiers:
chr17:g.7125300_7125330dup (hg19)
chr17:g.7125299_7125300insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA (hg19)
chr17:g.7221981_7222011dup (hg38)
chr17:g.7221980_7221981insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA (hg38)
ERepo:
CA8337802/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221981_7222011dup , CM000679.2:g.7221981_7222011dup | GRCh38 |
| NC_000017.10:g.7125300_7125330dup , CM000679.1:g.7125300_7125330dup | GRCh37 |
| NC_000017.9:g.7066024_7066054dup | NCBI36 |
| NG_007975.1:g.7148_7178dup | |
| NG_008391.2:g.3040_3070dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.652_682dup MANE Select | ENSP00000349297.5:p.Ile228ArgfsTer35 | |
| ENST00000322910.9:c.*607_*637dup | ENSP00000325395.5:n.*607_*637dup | |
| ENST00000350303.9:c.586_616dup | ENSP00000344152.5:p.Ile206ArgfsTer35 | |
| ENST00000356839.9:c.652_682dup | ENSP00000349297.5:p.Ile228ArgfsTer35 | |
| ENST00000543245.6:c.721_751dup | ENSP00000438689.2:p.Ile251ArgfsTer35 | |
| ENST00000577191.5:n.729_759dup | ||
| ENST00000577857.5:n.468_498dup | ||
| ENST00000579286.5:n.833_863dup | ||
| ENST00000580365.1:n.383_413dup | ||
| ENST00000581378.5:c.370_400dup | ||
| ENST00000582379.1:n.36_66dup | ||
| ENST00000583760.1:n.434_464dup | ||
| NM_000018.3:c.652_682dup | NP_000009.1:p.Ile228ArgfsTer35 | |
| NM_001033859.2:c.586_616dup | NP_001029031.1:p.Ile206ArgfsTer35 | |
| NM_001270447.1:c.721_751dup | NP_001257376.1:p.Ile251ArgfsTer35 | |
| NM_001270448.1:c.424_454dup | NP_001257377.1:p.Ile152ArgfsTer35 | |
| XM_006721516.2:c.652_682dup | XP_006721579.2:p.Ile228ArgfsTer35 | |
| XM_011523829.1:c.652_682dup | XP_011522131.1:p.Ile228ArgfsTer35 | |
| XM_011523830.1:c.652_682dup | XP_011522132.1:p.Ile228ArgfsTer35 | |
| XR_934021.1:n.759_789dup | ||
| XR_934022.1:n.759_789dup | ||
| XR_934023.1:n.759_789dup | ||
| XM_006721516.3:c.652_682dup | XP_006721579.2:p.Ile228ArgfsTer35 | |
| XM_011523829.2:c.652_682dup | XP_011522131.1:p.Ile228ArgfsTer35 | |
| XM_011523830.2:c.652_682dup | XP_011522132.1:p.Ile228ArgfsTer35 | |
| XM_024450741.1:c.652_682dup | XP_024306509.1:p.Ile228ArgfsTer35 | |
| XR_934021.2:n.711_741dup | ||
| XR_934022.2:n.711_741dup | ||
| XR_934023.2:n.711_741dup | ||
| NM_000018.4:c.652_682dup MANE Select | NP_000009.1:p.Ile228ArgfsTer35 | |
| NM_001033859.3:c.586_616dup | NP_001029031.1:p.Ile206ArgfsTer35 | |
| NM_001270447.2:c.721_751dup | NP_001257376.1:p.Ile251ArgfsTer35 | |
| NM_001270448.2:c.424_454dup | NP_001257377.1:p.Ile152ArgfsTer35 |