Linked Data
ClinVar Variation Id:
89942
dbSNP Id:
rs587778958
MyVariant Identifiers:
chr3:g.37090024_37090037dupGATTACCCCTTCTG (hg19)
chr3:g.37048533_37048546dupGATTACCCCTTCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048533_37048546dup , CM000665.2:g.37048533_37048546dup | GRCh38 |
| NC_000003.11:g.37090024_37090037dup , CM000665.1:g.37090024_37090037dup | GRCh37 |
| NC_000003.10:g.37065028_37065041dup | NCBI36 |
| NG_007109.2:g.60184_60197dup , LRG_216:g.60184_60197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1668-1953_1668-1940dup | ENSP00000416476.2:n.1668-1953_1668-1940dup | |
| ENST00000429117.6:c.1619_1632dup | ENSP00000407019.2:p.Ile545AspfsTer5 | |
| ENST00000450420.6:c.1559-1953_1559-1940dup | ENSP00000393006.2:n.1559-1953_1559-1940dup | |
| ENST00000456676.7:c.1896+850_1896+863dup | ENSP00000416687.3:n.1896+850_1896+863dup | |
| ENST00000492474.6:c.1190_1203dup | ENSP00000518393.1:p.Ile402AspfsTer5 | |
| ENST00000616768.6:c.1897-371_1897-358dup | ENSP00000480669.3:n.1897-371_1897-358dup | |
| ENST00000673673.2:c.1748_1761dup | ENSP00000500979.2:p.Ile588AspfsTer5 | |
| ENST00000231790.8:c.1913_1926dup MANE Select | ENSP00000231790.3:p.Ile643AspfsTer5 | |
| ENST00000413212.2:c.*831_*844dup | ENSP00000400844.2:n.*831_*844dup | |
| ENST00000432299.6:c.*1745_*1758dup | ENSP00000416783.1:n.*1745_*1758dup | |
| ENST00000447829.6:c.*1024_*1037dup | ENSP00000399329.2:n.*1024_*1037dup | |
| ENST00000539477.6:c.1190_1203dup | ENSP00000443665.1:p.Ile402AspfsTer5 | |
| ENST00000616768.5:c.934-371_934-358dup | ENSP00000480669.2:n.934-371_934-358dup | |
| ENST00000673673.1:c.1701_1714dup | ||
| ENST00000673741.1:n.947_960dup | ||
| ENST00000673889.1:n.1295_1308dup | ||
| ENST00000673897.1:c.*1705_*1718dup | ENSP00000501109.1:n.*1705_*1718dup | |
| ENST00000673899.1:c.1181_1194dup | ENSP00000501030.1:p.Ile399AspfsTer5 | |
| ENST00000673947.1:c.*2053_*2066dup | ENSP00000501304.1:n.*2053_*2066dup | |
| ENST00000673972.1:c.*1791_*1804dup | ENSP00000501281.1:n.*1791_*1804dup | |
| ENST00000674019.1:c.1190_1203dup | ENSP00000501081.1:p.Ile402AspfsTer5 | |
| ENST00000674111.1:c.*142_*155dup | ENSP00000501162.1:n.*142_*155dup | |
| ENST00000674125.1:n.624_637dup | ||
| ENST00000231790.6:c.1913_1926dup | ENSP00000231790.2:p.Ile643AspfsTer5 | |
| ENST00000413740.1:c.291-1953_291-1940dup | ENSP00000416476.1:n.291-1953_291-1940dup | |
| ENST00000435176.5:c.1619_1632dup | ENSP00000402564.1:p.Ile545AspfsTer5 | |
| ENST00000450420.5:c.182-1953_182-1940dup | ENSP00000393006.1:n.182-1953_182-1940dup | |
| ENST00000455445.6:c.1190_1203dup | ENSP00000398272.2:p.Ile402AspfsTer5 | |
| ENST00000456676.6:c.1871+850_1871+863dup | ||
| ENST00000458205.6:c.1190_1203dup | ENSP00000402667.2:p.Ile402AspfsTer5 | |
| ENST00000536378.5:c.1190_1203dup | ENSP00000444286.2:p.Ile402AspfsTer5 | |
| ENST00000539477.5:c.1190_1203dup | ENSP00000443665.1:p.Ile402AspfsTer5 | |
| NM_000249.3:c.1913_1926dup , LRG_216t1:c.1913_1926dup | NP_000240.1:p.Ile643AspfsTer5 | |
| NM_001167617.1:c.1619_1632dup | NP_001161089.1:p.Ile545AspfsTer5 | |
| NM_001167618.1:c.1190_1203dup | NP_001161090.1:p.Ile402AspfsTer5 | |
| NM_001167619.1:c.1190_1203dup | NP_001161091.1:p.Ile402AspfsTer5 | |
| NM_001258271.1:c.1896+850_1896+863dup | NP_001245200.1:n.1896+850_1896+863dup | |
| NM_001258273.1:c.1190_1203dup | NP_001245202.1:p.Ile402AspfsTer5 | |
| NM_001258274.1:c.1190_1203dup | NP_001245203.1:p.Ile402AspfsTer5 | |
| XM_005265161.1:c.1706_1719dup | XP_005265218.1:p.Ile574AspfsTer5 | |
| XM_005265163.1:c.1190_1203dup | XP_005265220.1:p.Ile402AspfsTer5 | |
| XM_005265164.1:c.1190_1203dup | XP_005265221.1:p.Ile402AspfsTer5 | |
| XM_005265166.1:c.890_903dup | XP_005265223.1:p.Ile302AspfsTer5 | |
| XM_011533727.1:c.839_852dup | XP_011532029.1:p.Ile285AspfsTer5 | |
| NM_001167617.2:c.1619_1632dup | NP_001161089.1:p.Ile545AspfsTer5 | |
| NM_001167618.2:c.1190_1203dup | NP_001161090.1:p.Ile402AspfsTer5 | |
| NM_001167619.2:c.1190_1203dup | NP_001161091.1:p.Ile402AspfsTer5 | |
| NM_001258274.2:c.1190_1203dup | NP_001245203.1:p.Ile402AspfsTer5 | |
| NM_001354615.1:c.1190_1203dup | NP_001341544.1:p.Ile402AspfsTer5 | |
| NM_001354616.1:c.1190_1203dup | NP_001341545.1:p.Ile402AspfsTer5 | |
| NM_001354617.1:c.1190_1203dup | NP_001341546.1:p.Ile402AspfsTer5 | |
| NM_001354618.1:c.1190_1203dup | NP_001341547.1:p.Ile402AspfsTer5 | |
| NM_001354619.1:c.1190_1203dup | NP_001341548.1:p.Ile402AspfsTer5 | |
| NM_001354620.1:c.1619_1632dup | NP_001341549.1:p.Ile545AspfsTer5 | |
| NM_001354621.1:c.890_903dup | NP_001341550.1:p.Ile302AspfsTer5 | |
| NM_001354622.1:c.890_903dup | NP_001341551.1:p.Ile302AspfsTer5 | |
| NM_001354623.1:c.890_903dup | NP_001341552.1:p.Ile302AspfsTer5 | |
| NM_001354624.1:c.839_852dup | NP_001341553.1:p.Ile285AspfsTer5 | |
| NM_001354625.1:c.839_852dup | NP_001341554.1:p.Ile285AspfsTer5 | |
| NM_001354626.1:c.839_852dup | NP_001341555.1:p.Ile285AspfsTer5 | |
| NM_001354627.1:c.839_852dup | NP_001341556.1:p.Ile285AspfsTer5 | |
| NM_001354628.1:c.1897-371_1897-358dup | NP_001341557.1:n.1897-371_1897-358dup | |
| NM_001354629.1:c.1814_1827dup | NP_001341558.1:p.Ile610AspfsTer5 | |
| NM_001354630.1:c.1748_1761dup | NP_001341559.1:p.Ile588AspfsTer5 | |
| XM_005265161.2:c.1706_1719dup | XP_005265218.1:p.Ile574AspfsTer5 | |
| XM_017006450.2:c.890_903dup | XP_016861939.1:p.Ile302AspfsTer5 | |
| NM_000249.4:c.1913_1926dup MANE Select | NP_000240.1:p.Ile643AspfsTer5 | |
| NM_001167617.3:c.1619_1632dup | NP_001161089.1:p.Ile545AspfsTer5 | |
| NM_001167618.3:c.1190_1203dup | NP_001161090.1:p.Ile402AspfsTer5 | |
| NM_001167619.3:c.1190_1203dup | NP_001161091.1:p.Ile402AspfsTer5 | |
| NM_001258271.2:c.1896+850_1896+863dup | NP_001245200.1:n.1896+850_1896+863dup | |
| NM_001258273.2:c.1190_1203dup | NP_001245202.1:p.Ile402AspfsTer5 | |
| NM_001258274.3:c.1190_1203dup | NP_001245203.1:p.Ile402AspfsTer5 | |
| NM_001354615.2:c.1190_1203dup | NP_001341544.1:p.Ile402AspfsTer5 | |
| NM_001354616.2:c.1190_1203dup | NP_001341545.1:p.Ile402AspfsTer5 | |
| NM_001354617.2:c.1190_1203dup | NP_001341546.1:p.Ile402AspfsTer5 | |
| NM_001354618.2:c.1190_1203dup | NP_001341547.1:p.Ile402AspfsTer5 | |
| NM_001354619.2:c.1190_1203dup | NP_001341548.1:p.Ile402AspfsTer5 | |
| NM_001354620.2:c.1619_1632dup | NP_001341549.1:p.Ile545AspfsTer5 | |
| NM_001354621.2:c.890_903dup | NP_001341550.1:p.Ile302AspfsTer5 | |
| NM_001354622.2:c.890_903dup | NP_001341551.1:p.Ile302AspfsTer5 | |
| NM_001354623.2:c.890_903dup | NP_001341552.1:p.Ile302AspfsTer5 | |
| NM_001354624.2:c.839_852dup | NP_001341553.1:p.Ile285AspfsTer5 | |
| NM_001354625.2:c.839_852dup | NP_001341554.1:p.Ile285AspfsTer5 | |
| NM_001354626.2:c.839_852dup | NP_001341555.1:p.Ile285AspfsTer5 | |
| NM_001354627.2:c.839_852dup | NP_001341556.1:p.Ile285AspfsTer5 | |
| NM_001354628.2:c.1897-371_1897-358dup | NP_001341557.1:n.1897-371_1897-358dup | |
| NM_001354629.2:c.1814_1827dup | NP_001341558.1:p.Ile610AspfsTer5 | |
| NM_001354630.2:c.1748_1761dup | NP_001341559.1:p.Ile588AspfsTer5 |