Linked Data
ClinVar Variation Id:
5774
ClinVar RCV Id:
RCV000006130
dbSNP Id:
rs863223284
MyVariant Identifiers:
chr7:g.94230111dupA (hg19)
chr7:g.94230110_94230111insA (hg19)
chr7:g.94600799dupA (hg38)
chr7:g.94600798_94600799insA (hg38)
PubMed:
PMID:12821748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94600802dup , CM000669.2:g.94600802dup | GRCh38 |
| NC_000007.13:g.94230114dup , CM000669.1:g.94230114dup | GRCh37 |
| NC_000007.12:g.94068050dup | NCBI36 |
| NG_008893.1:g.60411dup | |
| NG_008893.2:g.60411dup | |
| NG_008893.3:g.60774dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.992dup (SGCE) | ENSP00000405313.2:p.Leu331PhefsTer3 | |
| ENST00000428696.7:c.863dup (SGCE) | ENSP00000397536.3:p.Leu288PhefsTer3 | |
| ENST00000437425.7:c.761dup (SGCE) | ENSP00000394061.2:p.Leu254PhefsTer3 | |
| ENST00000445866.7:c.884dup (SGCE) | ENSP00000398930.2:p.Leu295PhefsTer3 | |
| ENST00000447873.6:c.884dup (SGCE) | ENSP00000388734.1:p.Leu295PhefsTer3 | |
| ENST00000642169.1:c.*266dup (SGCE) | ENSP00000496346.1:n.*266dup | |
| ENST00000642291.1:c.745dup (SGCE) | ||
| ENST00000642353.1:n.855dup (SGCE) | ||
| ENST00000642394.1:c.761dup (SGCE) | ENSP00000493751.1:p.Leu254PhefsTer3 | |
| ENST00000642441.1:c.965dup (SGCE) | ENSP00000495994.1:p.Leu322PhefsTer3 | |
| ENST00000642497.1:n.1657dup (SGCE) | ||
| ENST00000642564.1:n.984dup (SGCE) | ||
| ENST00000642638.1:c.*922dup (SGCE) | ENSP00000495555.1:n.*922dup | |
| ENST00000642707.1:c.992dup (SGCE) | ENSP00000495270.1:p.Leu331PhefsTer3 | |
| ENST00000642754.1:n.5756dup (SGCE) | ||
| ENST00000642759.1:n.973dup (SGCE) | ||
| ENST00000642802.1:n.706dup (SGCE) | ||
| ENST00000642904.1:n.972dup (SGCE) | ||
| ENST00000642933.1:c.884dup (SGCE) | ENSP00000496237.1:p.Leu295PhefsTer3 | |
| ENST00000643020.1:c.810dup (SGCE) | ||
| ENST00000643041.1:c.884dup (SGCE) | ENSP00000495311.1:p.Leu295PhefsTer3 | |
| ENST00000643128.1:c.884dup (SGCE) | ENSP00000496678.1:p.Leu295PhefsTer3 | |
| ENST00000643160.1:c.115dup (SGCE) | ||
| ENST00000643193.1:c.884dup (SGCE) | ENSP00000496559.1:p.Leu295PhefsTer3 | |
| ENST00000643206.1:c.*465dup (SGCE) | ENSP00000496172.1:n.*465dup | |
| ENST00000643272.1:c.992dup (SGCE) | ENSP00000494488.1:p.Leu331PhefsTer3 | |
| ENST00000643324.1:n.1775dup (SGCE) | ||
| ENST00000643491.1:n.812dup (SGCE) | ||
| ENST00000643568.1:c.565dup (SGCE) | ||
| ENST00000643605.1:c.*871dup (SGCE) | ENSP00000496480.1:n.*871dup | |
| ENST00000643610.1:c.884dup (SGCE) | ENSP00000494350.1:p.Leu295PhefsTer3 | |
| ENST00000643714.1:n.952dup (SGCE) | ||
| ENST00000643903.1:c.884dup (SGCE) | ENSP00000495165.1:p.Leu295PhefsTer3 | |
| ENST00000643991.1:c.793dup (SGCE) | ||
| ENST00000644087.1:c.*961dup (SGCE) | ENSP00000495249.1:n.*961dup | |
| ENST00000644116.1:c.884dup (SGCE) | ENSP00000495276.1:p.Leu295PhefsTer3 | |
| ENST00000644122.1:c.965dup (SGCE) | ENSP00000495236.1:p.Leu322PhefsTer3 | |
| ENST00000644201.1:c.667dup (SGCE) | ENSP00000495044.1:n.667dup | |
| ENST00000644268.1:n.1504dup (SGCE) | ||
| ENST00000644373.1:n.1920dup (SGCE) | ||
| ENST00000644375.1:c.950dup (SGCE) | ENSP00000494315.1:p.Leu317PhefsTer3 | |
| ENST00000644533.1:n.1639dup (SGCE) | ||
| ENST00000644551.1:c.965dup (SGCE) | ENSP00000493981.1:p.Leu322PhefsTer3 | |
| ENST00000644609.1:c.884dup (SGCE) | ENSP00000496045.1:p.Leu295PhefsTer3 | |
| ENST00000644639.1:c.*545dup (SGCE) | ENSP00000496391.1:n.*545dup | |
| ENST00000644658.1:c.390-1076dup (SGCE) | ||
| ENST00000644674.1:n.785dup (SGCE) | ||
| ENST00000644681.1:c.611dup (SGCE) | ENSP00000496455.1:p.Leu204PhefsTer3 | |
| ENST00000644682.1:c.948dup (SGCE) | ||
| ENST00000644816.1:c.884dup (SGCE) | ENSP00000494898.1:p.Leu295PhefsTer3 | |
| ENST00000644966.1:c.863dup (SGCE) | ENSP00000495105.1:n.863dup | |
| ENST00000645101.1:c.1073dup (SGCE) | ENSP00000494975.1:p.Leu358PhefsTer3 | |
| ENST00000645109.1:c.992dup (SGCE) | ENSP00000495931.1:p.Leu331PhefsTer3 | |
| ENST00000645262.1:c.761dup (SGCE) | ENSP00000494164.1:p.Leu254PhefsTer3 | |
| ENST00000645445.1:c.858dup (SGCE) | ||
| ENST00000645535.1:c.611dup (SGCE) | ENSP00000493984.1:p.Leu204PhefsTer3 | |
| ENST00000645579.1:n.1804dup (SGCE) | ||
| ENST00000645624.1:n.447dup (SGCE) | ||
| ENST00000645725.1:c.965dup (SGCE) | ENSP00000495480.1:p.Leu322PhefsTer3 | |
| ENST00000646098.1:c.860dup (SGCE) | ENSP00000495591.1:p.Leu287PhefsTer3 | |
| ENST00000646119.1:c.858dup (SGCE) | ||
| ENST00000646137.1:c.884dup (SGCE) | ENSP00000495199.1:p.Leu295PhefsTer3 | |
| ENST00000646265.1:c.973dup (SGCE) | ||
| ENST00000646301.1:c.857dup (SGCE) | ||
| ENST00000646434.1:c.1133dup (SGCE) | ||
| ENST00000646466.1:c.*814dup (SGCE) | ENSP00000493511.1:n.*814dup | |
| ENST00000646489.1:c.992dup (SGCE) | ENSP00000496268.1:p.Leu331PhefsTer3 | |
| ENST00000646559.1:c.*814dup (SGCE) | ENSP00000495838.1:n.*814dup | |
| ENST00000646600.1:c.*814dup (SGCE) | ENSP00000494041.1:n.*814dup | |
| ENST00000646682.1:c.*492dup (SGCE) | ENSP00000496461.1:n.*492dup | |
| ENST00000646879.1:c.884dup (SGCE) | ENSP00000495209.1:p.Leu295PhefsTer3 | |
| ENST00000646910.1:n.917dup (SGCE) | ||
| ENST00000646943.1:c.884dup (SGCE) | ENSP00000494666.1:p.Leu295PhefsTer3 | |
| ENST00000647018.1:c.992dup (SGCE) | ENSP00000493722.1:p.Leu331PhefsTer3 | |
| ENST00000647031.1:n.3498dup (SGCE) | ||
| ENST00000647048.1:c.708dup (SGCE) | ||
| ENST00000647096.1:c.992dup (SGCE) | ENSP00000494192.1:p.Leu331PhefsTer3 | |
| ENST00000647110.1:c.890dup (SGCE) | ENSP00000494738.1:p.Leu297PhefsTer3 | |
| ENST00000647334.1:c.990dup (SGCE) | ||
| ENST00000647351.1:c.965dup (SGCE) | ENSP00000494556.1:p.Leu322PhefsTer3 | |
| ENST00000647379.1:n.97dup (SGCE) | ||
| ENST00000647533.1:n.1583dup (SGCE) | ||
| ENST00000648936.2:c.884dup (SGCE) MANE Select | ENSP00000497130.1:p.Leu295PhefsTer3 | |
| ENST00000265735.11:c.884dup (SGCE) | ENSP00000265735.6:p.Leu295PhefsTer3 | |
| ENST00000415788.2:c.992dup (SGCE) | ENSP00000405313.2:p.Leu331PhefsTer3 | |
| ENST00000428696.6:c.884dup (SGCE) | ENSP00000397536.2:p.Leu295PhefsTer3 | |
| ENST00000437425.6:c.761dup (SGCE) | ENSP00000394061.2:p.Leu254PhefsTer3 | |
| ENST00000445866.6:c.884dup (SGCE) | ENSP00000398930.2:p.Leu295PhefsTer3 | |
| ENST00000447873.5:c.884dup (SGCE) | ENSP00000388734.1:p.Leu295PhefsTer3 | |
| ENST00000462731.1:n.177dup (SGCE) | ||
| NM_001099400.1:c.884dup (SGCE) | NP_001092870.1:p.Leu295PhefsTer3 | |
| NM_001099401.1:c.884dup (SGCE) | NP_001092871.1:p.Leu295PhefsTer3 | |
| NM_001301139.1:c.761dup (SGCE) | NP_001288068.1:p.Leu254PhefsTer3 | |
| NM_003919.2:c.884dup (SGCE) | NP_003910.1:p.Leu295PhefsTer3 | |
| XM_005250675.3:c.992dup (SGCE) | XP_005250732.1:p.Leu331PhefsTer3 | |
| XM_005250677.3:c.992dup (SGCE) | XP_005250734.1:p.Leu331PhefsTer3 | |
| XM_011516495.1:c.2128-30514dup (CASD1) | XP_011514797.1:n.2128-30514dup | |
| XM_011516663.1:c.992dup (SGCE) | XP_011514965.1:p.Leu331PhefsTer3 | |
| XM_011516664.1:c.992dup (SGCE) | XP_011514966.1:p.Leu331PhefsTer3 | |
| XM_011516665.1:c.884dup (SGCE) | XP_011514967.1:p.Leu295PhefsTer3 | |
| XM_011516666.1:c.884dup (SGCE) | XP_011514968.1:p.Leu295PhefsTer3 | |
| XM_011516667.1:c.797dup (SGCE) | XP_011514969.1:p.Leu266PhefsTer3 | |
| XM_011516668.1:c.761dup (SGCE) | XP_011514970.1:p.Leu254PhefsTer3 | |
| XM_011516669.1:c.611dup (SGCE) | XP_011514971.1:p.Leu204PhefsTer3 | |
| NM_001346713.1:c.992dup (SGCE) | NP_001333642.1:p.Leu331PhefsTer3 | |
| NM_001346715.1:c.992dup (SGCE) | NP_001333644.1:p.Leu331PhefsTer3 | |
| NM_001346717.1:c.884dup (SGCE) | NP_001333646.1:p.Leu295PhefsTer3 | |
| NM_001346719.1:c.797dup (SGCE) | NP_001333648.1:p.Leu266PhefsTer3 | |
| NM_001346720.1:c.611dup (SGCE) | NP_001333649.1:p.Leu204PhefsTer3 | |
| NM_001362807.1:c.797dup (SGCE) | NP_001349736.1:p.Leu266PhefsTer3 | |
| NM_001362808.1:c.611dup (SGCE) | NP_001349737.1:p.Leu204PhefsTer3 | |
| NM_001362809.1:c.761dup (SGCE) | NP_001349738.1:p.Leu254PhefsTer3 | |
| XM_011516495.2:c.2128-30514dup (CASD1) | XP_011514797.1:n.2128-30514dup | |
| XM_011516663.2:c.992dup (SGCE) | XP_011514965.1:p.Leu331PhefsTer3 | |
| XM_011516664.2:c.992dup (SGCE) | XP_011514966.1:p.Leu331PhefsTer3 | |
| XM_011516665.3:c.884dup (SGCE) | XP_011514967.1:p.Leu295PhefsTer3 | |
| XM_011516666.3:c.884dup (SGCE) | XP_011514968.1:p.Leu295PhefsTer3 | |
| XM_011516667.2:c.797dup (SGCE) | XP_011514969.1:p.Leu266PhefsTer3 | |
| XM_011516669.3:c.611dup (SGCE) | XP_011514971.1:p.Leu204PhefsTer3 | |
| XM_017012763.1:c.797dup (SGCE) | XP_016868252.1:p.Leu266PhefsTer3 | |
| XM_017012767.1:c.611dup (SGCE) | XP_016868256.1:p.Leu204PhefsTer3 | |
| XM_024446985.1:c.761dup (SGCE) | XP_024302753.1:p.Leu254PhefsTer3 | |
| XM_024446986.1:c.761dup (SGCE) | XP_024302754.1:p.Leu254PhefsTer3 | |
| NM_001099400.2:c.884dup (SGCE) | NP_001092870.1:p.Leu295PhefsTer3 | |
| NM_001099401.2:c.884dup (SGCE) | NP_001092871.1:p.Leu295PhefsTer3 | |
| NM_001301139.2:c.761dup (SGCE) | NP_001288068.1:p.Leu254PhefsTer3 | |
| NM_001346713.2:c.992dup (SGCE) | NP_001333642.1:p.Leu331PhefsTer3 | |
| NM_001346715.2:c.992dup (SGCE) | NP_001333644.1:p.Leu331PhefsTer3 | |
| NM_001346717.2:c.884dup (SGCE) | NP_001333646.1:p.Leu295PhefsTer3 | |
| NM_001346719.2:c.797dup (SGCE) | NP_001333648.1:p.Leu266PhefsTer3 | |
| NM_001346720.2:c.611dup (SGCE) | NP_001333649.1:p.Leu204PhefsTer3 | |
| NM_001362807.2:c.797dup (SGCE) | NP_001349736.1:p.Leu266PhefsTer3 | |
| NM_001362808.2:c.611dup (SGCE) | NP_001349737.1:p.Leu204PhefsTer3 | |
| NM_001362809.2:c.761dup (SGCE) | NP_001349738.1:p.Leu254PhefsTer3 | |
| NM_003919.3:c.884dup (SGCE) MANE Select | NP_003910.1:p.Leu295PhefsTer3 |