Linked Data
ClinVar Variation Id:
89969
ClinVar RCV Id:
RCV000075451
dbSNP Id:
rs267607873
MyVariant Identifiers:
chr3:g.37090097_37090101delinsC (hg19)
chr3:g.37048606_37048610delinsC (hg38)
PubMed:
PMID:16341550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048606_37048610delinsC , CM000665.2:g.37048606_37048610delinsC | GRCh38 |
| NC_000003.11:g.37090097_37090101delinsC , CM000665.1:g.37090097_37090101delinsC | GRCh37 |
| NC_000003.10:g.37065101_37065105delinsC | NCBI36 |
| NG_007109.2:g.60257_60261delinsC , LRG_216:g.60257_60261delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-1880_1668-1876delinsC | ENSP00000416476.2:n.1668-1880_1668-1876de... | |
| ENST00000429117.6:c.1692_1695+1delinsC | ||
| ENST00000450420.6:c.1559-1880_1559-1876delinsC | ENSP00000393006.2:n.1559-1880_1559-1876de... | |
| ENST00000456676.7:c.1896+923_1896+927delinsC | ENSP00000416687.3:n.1896+923_1896+927deli... | |
| ENST00000492474.6:c.1263_1266+1delinsC | ||
| ENST00000616768.6:c.1897-298_1897-294delinsC | ENSP00000480669.3:n.1897-298_1897-294deli... | |
| ENST00000673673.2:c.1821_1824+1delinsC | ||
| ENST00000231790.8:c.1986_1989+1delinsC | ||
| ENST00000413212.2:c.*904_*907+1delinsC | ||
| ENST00000432299.6:c.*1818_*1821+1delinsC | ||
| ENST00000447829.6:c.*1097_*1100+1delinsC | ||
| ENST00000539477.6:c.1263_1266+1delinsC | ||
| ENST00000616768.5:c.934-298_934-294delinsC | ENSP00000480669.2:n.934-298_934-294delins... | |
| ENST00000673673.1:c.1774_1777+1delinsC | ||
| ENST00000673741.1:n.1020_1023+1delinsC | ||
| ENST00000673889.1:n.1368_1371+1delinsC | ||
| ENST00000673897.1:c.*1778_*1781+1delinsC | ||
| ENST00000673899.1:c.1254_1257+1delinsC | ||
| ENST00000673947.1:c.*2126_*2129+1delinsC | ||
| ENST00000673972.1:c.*1864_*1867+1delinsC | ||
| ENST00000674019.1:c.1263_1266+1delinsC | ||
| ENST00000674111.1:c.*215_*218+1delinsC | ||
| ENST00000674125.1:n.697_700+1delinsC | ||
| ENST00000231790.6:c.1986_1989+1delinsC | ||
| ENST00000413740.1:c.291-1880_291-1876delinsC | ENSP00000416476.1:n.291-1880_291-1876deli... | |
| ENST00000435176.5:c.1692_1695+1delinsC | ||
| ENST00000450420.5:c.182-1880_182-1876delinsC | ENSP00000393006.1:n.182-1880_182-1876deli... | |
| ENST00000455445.6:c.1263_1266+1delinsC | ||
| ENST00000456676.6:c.1871+923_1871+927delinsC | ||
| ENST00000458205.6:c.1263_1266+1delinsC | ||
| ENST00000536378.5:c.1263_1266+1delinsC | ||
| ENST00000539477.5:c.1263_1266+1delinsC | ||
| NM_000249.3:c.1986_1989+1delinsC , LRG_216t1:c.1986_1989+1delinsC | ||
| NM_001167617.1:c.1692_1695+1delinsC | ||
| NM_001167618.1:c.1263_1266+1delinsC | ||
| NM_001167619.1:c.1263_1266+1delinsC | ||
| NM_001258271.1:c.1896+923_1896+927delinsC | NP_001245200.1:n.1896+923_1896+927delinsC... | |
| NM_001258273.1:c.1263_1266+1delinsC | ||
| NM_001258274.1:c.1263_1266+1delinsC | ||
| XM_005265161.1:c.1779_1782+1delinsC | ||
| XM_005265163.1:c.1263_1266+1delinsC | ||
| XM_005265164.1:c.1263_1266+1delinsC | ||
| XM_005265166.1:c.963_966+1delinsC | ||
| XM_011533727.1:c.912_915+1delinsC | ||
| NM_001167617.2:c.1692_1695+1delinsC | ||
| NM_001167618.2:c.1263_1266+1delinsC | ||
| NM_001167619.2:c.1263_1266+1delinsC | ||
| NM_001258274.2:c.1263_1266+1delinsC | ||
| NM_001354615.1:c.1263_1266+1delinsC | ||
| NM_001354616.1:c.1263_1266+1delinsC | ||
| NM_001354617.1:c.1263_1266+1delinsC | ||
| NM_001354618.1:c.1263_1266+1delinsC | ||
| NM_001354619.1:c.1263_1266+1delinsC | ||
| NM_001354620.1:c.1692_1695+1delinsC | ||
| NM_001354621.1:c.963_966+1delinsC | ||
| NM_001354622.1:c.963_966+1delinsC | ||
| NM_001354623.1:c.963_966+1delinsC | ||
| NM_001354624.1:c.912_915+1delinsC | ||
| NM_001354625.1:c.912_915+1delinsC | ||
| NM_001354626.1:c.912_915+1delinsC | ||
| NM_001354627.1:c.912_915+1delinsC | ||
| NM_001354628.1:c.1897-298_1897-294delinsC | NP_001341557.1:n.1897-298_1897-294delinsC... | |
| NM_001354629.1:c.1887_1890+1delinsC | ||
| NM_001354630.1:c.1821_1824+1delinsC | ||
| XM_005265161.2:c.1779_1782+1delinsC | ||
| XM_017006450.2:c.963_966+1delinsC | ||
| NM_000249.4:c.1986_1989+1delinsC | ||
| NM_001167617.3:c.1692_1695+1delinsC | ||
| NM_001167618.3:c.1263_1266+1delinsC | ||
| NM_001167619.3:c.1263_1266+1delinsC | ||
| NM_001258271.2:c.1896+923_1896+927delinsC | NP_001245200.1:n.1896+923_1896+927delinsC... | |
| NM_001258273.2:c.1263_1266+1delinsC | ||
| NM_001258274.3:c.1263_1266+1delinsC | ||
| NM_001354615.2:c.1263_1266+1delinsC | ||
| NM_001354616.2:c.1263_1266+1delinsC | ||
| NM_001354617.2:c.1263_1266+1delinsC | ||
| NM_001354618.2:c.1263_1266+1delinsC | ||
| NM_001354619.2:c.1263_1266+1delinsC | ||
| NM_001354620.2:c.1692_1695+1delinsC | ||
| NM_001354621.2:c.963_966+1delinsC | ||
| NM_001354622.2:c.963_966+1delinsC | ||
| NM_001354623.2:c.963_966+1delinsC | ||
| NM_001354624.2:c.912_915+1delinsC | ||
| NM_001354625.2:c.912_915+1delinsC | ||
| NM_001354626.2:c.912_915+1delinsC | ||
| NM_001354627.2:c.912_915+1delinsC | ||
| NM_001354628.2:c.1897-298_1897-294delinsC | NP_001341557.1:n.1897-298_1897-294delinsC... | |
| NM_001354629.2:c.1887_1890+1delinsC | ||
| NM_001354630.2:c.1821_1824+1delinsC |