Linked Data
ClinVar Variation Id:
439411
dbSNP Id:
rs1554086584
MyVariant Identifiers:
chr5:g.112176556_112176559delinsATCG (hg19)
chr5:g.112840859_112840862delinsATCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840859_112840862delinsATCG , CM000667.2:g.112840859_112840862delinsATCG | GRCh38 |
| NC_000005.9:g.112176556_112176559delinsATCG , CM000667.1:g.112176556_112176559delinsATCG | GRCh37 |
| NC_000005.8:g.112204455_112204458delinsATCG | NCBI36 |
| NG_008481.4:g.153339_153342delinsATCG , LRG_130:g.153339_153342delinsATCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5319_5322delinsATCG | ENSP00000473355.2:p.Ala1773= | |
| ENST00000505350.2:c.*5271_*5274delinsATCG | ENSP00000481752.1:n.*5271_*5274delinsATCG | |
| ENST00000507379.6:c.5211_5214delinsATCG | ENSP00000423224.2:p.Ala1737= | |
| ENST00000509732.6:c.5265_5268delinsATCG | ENSP00000426541.2:p.Ala1755= | |
| ENST00000512211.7:c.5265_5268delinsATCG | ENSP00000423828.3:p.Ala1755= | |
| ENST00000257430.9:c.5265_5268delinsATCG MANE Select | ENSP00000257430.4:p.Ala1755= | |
| ENST00000257430.8:c.5265_5268delinsATCG | ENSP00000257430.4:p.Ala1755= | |
| ENST00000508376.6:c.5265_5268delinsATCG | ENSP00000427089.2:p.Ala1755= | |
| ENST00000508624.5:c.*4587_*4590delinsATCG | ENSP00000424265.1:n.*4587_*4590delinsATCG | |
| ENST00000520401.1:c.230+11887_230+11890delinsATCG | ||
| NM_000038.5:c.5265_5268delinsATCG | NP_000029.2:p.Ala1755= | |
| NM_001127510.2:c.5265_5268delinsATCG | NP_001120982.1:p.Ala1755= | |
| NM_001127511.2:c.5211_5214delinsATCG | NP_001120983.2:p.Ala1737= | |
| NM_001354895.1:c.5265_5268delinsATCG | NP_001341824.1:p.Ala1755= | |
| NM_001354896.1:c.5319_5322delinsATCG | NP_001341825.1:p.Ala1773= | |
| NM_001354897.1:c.5295_5298delinsATCG | NP_001341826.1:p.Ala1765= | |
| NM_001354898.1:c.5190_5193delinsATCG | NP_001341827.1:p.Ala1730= | |
| NM_001354899.1:c.5181_5184delinsATCG | NP_001341828.1:p.Ala1727= | |
| NM_001354900.1:c.5142_5145delinsATCG | NP_001341829.1:p.Ala1714= | |
| NM_001354901.1:c.5088_5091delinsATCG | NP_001341830.1:p.Ala1696= | |
| NM_001354902.1:c.4992_4995delinsATCG | NP_001341831.1:p.Ala1664= | |
| NM_001354903.1:c.4962_4965delinsATCG | NP_001341832.1:p.Ala1654= | |
| NM_001354904.1:c.4887_4890delinsATCG | NP_001341833.1:p.Ala1629= | |
| NM_001354905.1:c.4785_4788delinsATCG | NP_001341834.1:p.Ala1595= | |
| NM_001354906.1:c.4416_4419delinsATCG | NP_001341835.1:p.Ala1472= | |
| NM_000038.6:c.5265_5268delinsATCG MANE Select | NP_000029.2:p.Ala1755= | |
| NM_001127510.3:c.5265_5268delinsATCG | NP_001120982.1:p.Ala1755= | |
| NM_001127511.3:c.5211_5214delinsATCG | NP_001120983.2:p.Ala1737= | |
| NM_001354895.2:c.5265_5268delinsATCG | NP_001341824.1:p.Ala1755= | |
| NM_001354896.2:c.5319_5322delinsATCG | NP_001341825.1:p.Ala1773= | |
| NM_001354897.2:c.5295_5298delinsATCG | NP_001341826.1:p.Ala1765= | |
| NM_001354898.2:c.5190_5193delinsATCG | NP_001341827.1:p.Ala1730= | |
| NM_001354899.2:c.5181_5184delinsATCG | NP_001341828.1:p.Ala1727= | |
| NM_001354900.2:c.5142_5145delinsATCG | NP_001341829.1:p.Ala1714= | |
| NM_001354901.2:c.5088_5091delinsATCG | NP_001341830.1:p.Ala1696= | |
| NM_001354902.2:c.4992_4995delinsATCG | NP_001341831.1:p.Ala1664= | |
| NM_001354903.2:c.4962_4965delinsATCG | NP_001341832.1:p.Ala1654= | |
| NM_001354904.2:c.4887_4890delinsATCG | NP_001341833.1:p.Ala1629= | |
| NM_001354905.2:c.4785_4788delinsATCG | NP_001341834.1:p.Ala1595= | |
| NM_001354906.2:c.4416_4419delinsATCG | NP_001341835.1:p.Ala1472= |