Linked Data
ClinVar Variation Id:
222035
ClinVar RCV Id:
RCV000207507
dbSNP Id:
rs869025338
MyVariant Identifiers:
chr10:g.13699443_13699455dupCCTGGGACTCCAG (hg19)
chr10:g.13657443_13657455dupCCTGGGACTCCAG (hg38)
chr10:g.13657442_13657443insCCTGGGACTCCAG (hg38)
PubMed:
PMID:25388005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13657443_13657455dup , CM000672.2:g.13657443_13657455dup | GRCh38 |
| NC_000010.10:g.13699443_13699455dup , CM000672.1:g.13699443_13699455dup | GRCh37 |
| NC_000010.9:g.13739449_13739461dup | NCBI36 |
| NG_047164.1:g.678413_678425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495956.3:c.2134_2146dup | ENSP00000488764.2:p.Gly716AlafsTer26 | |
| ENST00000593351.2:n.47+9213_47+9225dup | ||
| ENST00000357447.7:c.2134_2146dup MANE Select | ENSP00000350032.2:p.Gly716AlafsTer26 | |
| ENST00000357447.6:c.2134_2146dup | ENSP00000350032.2:p.Gly716AlafsTer26 | |
| ENST00000358621.8:c.2089_2101dup | ENSP00000351438.4:p.Gly701AlafsTer26 | |
| NM_018027.3:c.2134_2146dup | NP_060497.3:p.Gly716AlafsTer26 | |
| XM_005252489.2:c.2233_2245dup | XP_005252546.1:p.Gly749AlafsTer26 | |
| XM_005252490.2:c.2218_2230dup | XP_005252547.1:p.Gly744AlafsTer26 | |
| XM_005252494.3:c.1690_1702dup | XP_005252551.1:p.Gly568AlafsTer26 | |
| XM_005252495.3:c.1087_1099dup | XP_005252552.1:p.Gly367AlafsTer26 | |
| XM_006717457.2:c.2314_2326dup | XP_006717520.1:p.Gly776AlafsTer26 | |
| XM_006717458.2:c.2314_2326dup | XP_006717521.1:p.Gly776AlafsTer26 | |
| XM_006717459.2:c.2278_2290dup | XP_006717522.1:p.Gly764AlafsTer26 | |
| XM_006717460.2:c.2269_2281dup | XP_006717523.1:p.Gly761AlafsTer26 | |
| XM_006717461.1:c.2233_2245dup | XP_006717524.1:p.Gly749AlafsTer26 | |
| XM_006717462.2:c.2170_2182dup | XP_006717525.1:p.Gly728AlafsTer26 | |
| XM_006717464.1:c.1147_1159dup | XP_006717527.1:p.Gly387AlafsTer26 | |
| XM_011519539.1:c.2263_2275dup | XP_011517841.1:p.Gly759AlafsTer26 | |
| XM_011519540.1:c.2263_2275dup | XP_011517842.1:p.Gly759AlafsTer26 | |
| XM_011519541.1:c.2257_2269dup | XP_011517843.1:p.Gly757AlafsTer26 | |
| XM_011519542.1:c.2185_2197dup | XP_011517844.1:p.Gly733AlafsTer26 | |
| XM_011519543.1:c.2170_2182dup | XP_011517845.1:p.Gly728AlafsTer26 | |
| XM_011519544.1:c.2170_2182dup | XP_011517846.1:p.Gly728AlafsTer26 | |
| XM_011519545.1:c.2170_2182dup | XP_011517847.1:p.Gly728AlafsTer26 | |
| XM_011519546.1:c.2134_2146dup | XP_011517848.1:p.Gly716AlafsTer26 | |
| NM_001318336.1:c.2182_2194dup | NP_001305265.1:p.Gly732AlafsTer26 | |
| NM_001318337.1:c.2233_2245dup | NP_001305266.1:p.Gly749AlafsTer26 | |
| NM_001318338.1:c.1207_1219dup | NP_001305267.1:p.Gly407AlafsTer26 | |
| NM_018027.4:c.2134_2146dup | NP_060497.3:p.Gly716AlafsTer26 | |
| XM_005252489.3:c.2233_2245dup | XP_005252546.1:p.Gly749AlafsTer26 | |
| XM_005252490.3:c.2218_2230dup | XP_005252547.1:p.Gly744AlafsTer26 | |
| XM_005252495.5:c.1087_1099dup | XP_005252552.1:p.Gly367AlafsTer26 | |
| XM_006717457.3:c.2314_2326dup | XP_006717520.1:p.Gly776AlafsTer26 | |
| XM_006717458.4:c.2314_2326dup | XP_006717521.1:p.Gly776AlafsTer26 | |
| XM_006717459.3:c.2278_2290dup | XP_006717522.1:p.Gly764AlafsTer26 | |
| XM_006717460.3:c.2269_2281dup | XP_006717523.1:p.Gly761AlafsTer26 | |
| XM_006717464.2:c.1147_1159dup | XP_006717527.1:p.Gly387AlafsTer26 | |
| XM_011519539.2:c.2263_2275dup | XP_011517841.1:p.Gly759AlafsTer26 | |
| XM_011519540.2:c.2263_2275dup | XP_011517842.1:p.Gly759AlafsTer26 | |
| XM_011519541.2:c.2257_2269dup | XP_011517843.1:p.Gly757AlafsTer26 | |
| XM_011519543.3:c.2170_2182dup | XP_011517845.1:p.Gly728AlafsTer26 | |
| XM_017016393.2:c.2278_2290dup | XP_016871882.1:p.Gly764AlafsTer26 | |
| XM_017016394.2:c.2134_2146dup | XP_016871883.1:p.Gly716AlafsTer26 | |
| XM_017016395.2:c.2122_2134dup | XP_016871884.1:p.Gly712AlafsTer26 | |
| XM_017016396.2:c.1150_1162dup | XP_016871885.1:p.Gly388AlafsTer26 | |
| XM_024448067.1:c.2236_2248dup | XP_024303835.1:p.Gly750AlafsTer26 | |
| XM_024448068.1:c.2203_2215dup | XP_024303836.1:p.Gly739AlafsTer26 | |
| XM_024448069.1:c.2170_2182dup | XP_024303837.1:p.Gly728AlafsTer26 | |
| XM_024448070.1:c.2170_2182dup | XP_024303838.1:p.Gly728AlafsTer26 | |
| XM_024448071.1:c.2158_2170dup | XP_024303839.1:p.Gly724AlafsTer26 | |
| XM_024448072.1:c.1690_1702dup | XP_024303840.1:p.Gly568AlafsTer26 | |
| XM_024448073.1:c.1654_1666dup | XP_024303841.1:p.Gly556AlafsTer26 | |
| XM_024448074.1:c.1243_1255dup | XP_024303842.1:p.Gly419AlafsTer26 | |
| NM_018027.5:c.2134_2146dup MANE Select | NP_060497.3:p.Gly716AlafsTer26 | |
| NM_001318336.2:c.2182_2194dup | NP_001305265.1:p.Gly732AlafsTer26 | |
| NM_001318337.2:c.2233_2245dup | NP_001305266.1:p.Gly749AlafsTer26 | |
| NM_001318338.2:c.1207_1219dup | NP_001305267.1:p.Gly407AlafsTer26 |