Linked Data
ClinVar Variation Id:
225422
ClinVar RCV Id:
RCV000490323
dbSNP Id:
rs747699128
ExAC:
1:5965515 TGGAG / T
gnomAD v2:
1-5965515-TGGAG-T
gnomAD v4:
1-5905455-TGGAG-T
PubMed:
PMID:12205563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5905457_5905460del , CM000663.2:g.5905457_5905460del | GRCh38 |
| NC_000001.10:g.5965517_5965520del , CM000663.1:g.5965517_5965520del | GRCh37 |
| NC_000001.9:g.5888104_5888107del | NCBI36 |
| NG_011724.2:g.92013_92016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.1788_1791del MANE Select | ENSP00000367398.4:p.Ser597TrpfsTer29 | |
| ENST00000378156.8:c.1788_1791del | ENSP00000367398.4:p.Ser597TrpfsTer29 | |
| ENST00000378169.7:c.*689_*692del | ENSP00000367411.3:n.*689_*692del | |
| ENST00000478423.6:n.1520_1523del | ||
| ENST00000489180.6:c.1785_1788del | ENSP00000423747.1:p.Ser596TrpfsTer29 | |
| ENST00000622020.4:c.1785_1788del | ENSP00000481831.2:p.Ser596TrpfsTer29 | |
| NM_001291593.1:c.249_252del | NP_001278522.1:p.Ser84TrpfsTer29 | |
| NM_001291594.1:c.252_255del | NP_001278523.1:p.Ser85TrpfsTer29 | |
| NM_015102.4:c.1788_1791del | NP_055917.1:p.Ser597TrpfsTer29 | |
| NR_111987.1:n.2053_2056del | ||
| XM_006710563.2:c.1788_1791del | XP_006710626.1:p.Ser597TrpfsTer29 | |
| XM_006710565.2:c.1788_1791del | XP_006710628.1:p.Ser597TrpfsTer29 | |
| XM_011541213.1:c.1785_1788del | XP_011539515.1:p.Ser596TrpfsTer29 | |
| XM_011541214.1:c.1788_1791del | XP_011539516.1:p.Ser597TrpfsTer29 | |
| XM_011541215.1:c.1677_1680del | XP_011539517.1:p.Ser560TrpfsTer29 | |
| XM_011541216.1:c.1788_1791del | XP_011539518.1:p.Ser597TrpfsTer29 | |
| XM_011541217.1:c.1788_1791del | XP_011539519.1:p.Ser597TrpfsTer29 | |
| XM_011541218.1:c.1788_1791del | XP_011539520.1:p.Ser597TrpfsTer29 | |
| XM_011541219.1:c.1734_1737del | XP_011539521.1:p.Ser579TrpfsTer29 | |
| XM_011541220.1:c.1788_1791del | XP_011539522.1:p.Ser597TrpfsTer29 | |
| XR_946604.1:n.1826_1829del | ||
| XR_946605.1:n.1826_1829del | ||
| XM_006710563.3:c.1788_1791del | XP_006710626.1:p.Ser597TrpfsTer29 | |
| XM_011541216.2:c.1788_1791del | XP_011539518.1:p.Ser597TrpfsTer29 | |
| XM_011541217.2:c.1788_1791del | XP_011539519.1:p.Ser597TrpfsTer29 | |
| XM_011541218.2:c.1788_1791del | XP_011539520.1:p.Ser597TrpfsTer29 | |
| XM_017000996.1:c.1785_1788del | XP_016856485.1:p.Ser596TrpfsTer29 | |
| XM_017000997.1:c.1788_1791del | XP_016856486.1:p.Ser597TrpfsTer29 | |
| XM_017000998.1:c.1788_1791del | XP_016856487.1:p.Ser597TrpfsTer29 | |
| XM_017000999.1:c.1260_1263del | XP_016856488.1:p.Ser421TrpfsTer29 | |
| XM_017001000.2:c.1260_1263del | XP_016856489.1:p.Ser421TrpfsTer29 | |
| XM_017001001.1:c.990_993del | XP_016856490.1:p.Ser331TrpfsTer29 | |
| XM_017001002.1:c.1788_1791del | XP_016856491.1:p.Ser597TrpfsTer29 | |
| XM_017001003.1:c.249_252del | XP_016856492.1:p.Ser84TrpfsTer29 | |
| XR_001737114.1:n.1826_1829del | ||
| XR_001737115.1:n.1826_1829del | ||
| NM_015102.5:c.1788_1791del MANE Select | NP_055917.1:p.Ser597TrpfsTer29 | |
| NM_001291593.2:c.249_252del | NP_001278522.1:p.Ser84TrpfsTer29 | |
| NM_001291594.2:c.252_255del | NP_001278523.1:p.Ser85TrpfsTer29 | |
| NR_111987.2:n.2005_2008del |