Canonical Allele Identifier: CA2580077600
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711812
ClinVar RCV Id: RCV002293357

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781659_140781660insG , CM000669.2:g.140781659_140781660insG GRCh38
NC_000007.13:g.140481459_140481460insG , CM000669.1:g.140481459_140481460insG GRCh37
NC_000007.12:g.140127928_140127929insG NCBI36
NG_007873.3:g.148105_148106insC , LRG_299:g.148105_148106insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1348_1349insC MANE Select ENSP00000493543.1:p.Trp450SerfsTer5
ENST00000288602.11:c.1468_1469insC ENSP00000288602.7:p.Trp490SerfsTer5
ENST00000479537.6:c.18_19insC
ENST00000496384.7:c.1348_1349insC ENSP00000419060.2:p.Trp450SerfsTer5
ENST00000497784.2:c.*798_*799insC ENSP00000420119.2:n.*798_*799insC
ENST00000642228.1:c.*426_*427insC ENSP00000493678.1:n.*426_*427insC
ENST00000642875.1:n.790_791insC
ENST00000644120.1:n.1738_1739insC
ENST00000644650.1:c.444_445insC
ENST00000644905.1:n.1437_1438insC
ENST00000644969.2:c.1468_1469insC MANE Plus Clinical ENSP00000496776.1:p.Trp490SerfsTer5
ENST00000646334.1:n.478_479insC
ENST00000646730.1:c.1348_1349insC ENSP00000494784.1:p.Trp450SerfsTer5
ENST00000646891.1:c.1348_1349insC ENSP00000493543.1:p.Trp450SerfsTer5
ENST00000647434.1:c.391_392insC ENSP00000495132.1:p.Trp131SerfsTer5
ENST00000288602.10:c.1348_1349insC ENSP00000288602.6:p.Trp450SerfsTer5
ENST00000496384.6:c.171_172insC
ENST00000497784.1:c.1383_1384insC ENSP00000420119.1:n.1383_1384insC
NM_004333.4:c.1348_1349insC , LRG_299t1:c.1348_1349insC NP_004324.2:p.Trp450SerfsTer5
XM_005250045.1:c.1348_1349insC XP_005250102.1:p.Trp450SerfsTer5
XM_005250046.1:c.1348_1349insC XP_005250103.1:p.Trp450SerfsTer5
XM_011516529.1:c.1348_1349insC XP_011514831.1:p.Trp450SerfsTer5
XM_011516530.1:c.1348_1349insC XP_011514832.1:p.Trp450SerfsTer5
XR_242190.1:n.1356_1357insC
XR_927520.1:n.1356_1357insC
XR_927521.1:n.1356_1357insC
XR_927522.1:n.1356_1357insC
XR_927523.1:n.1356_1357insC
NM_001354609.1:c.1348_1349insC NP_001341538.1:p.Trp450SerfsTer5
NM_004333.5:c.1348_1349insC NP_004324.2:p.Trp450SerfsTer5
NR_148928.1:n.1653_1654insC
XM_017012558.1:c.1468_1469insC XP_016868047.1:p.Trp490SerfsTer5
XM_017012559.1:c.1468_1469insC XP_016868048.1:p.Trp490SerfsTer5
XR_001744857.1:n.1476_1477insC
XR_001744858.1:n.1476_1477insC
NM_001354609.2:c.1348_1349insC NP_001341538.1:p.Trp450SerfsTer5
NM_001374244.1:c.1468_1469insC NP_001361173.1:p.Trp490SerfsTer5
NM_001374258.1:c.1468_1469insC MANE Plus Clinical NP_001361187.1:p.Trp490SerfsTer5
NM_004333.6:c.1348_1349insC MANE Select NP_004324.2:p.Trp450SerfsTer5
NM_001378467.1:c.1357_1358insC NP_001365396.1:p.Trp453SerfsTer5
NM_001378468.1:c.1348_1349insC NP_001365397.1:p.Trp450SerfsTer5
NM_001378469.1:c.1282_1283insC NP_001365398.1:p.Trp428SerfsTer5
NM_001378470.1:c.1246_1247insC NP_001365399.1:p.Trp416SerfsTer5
NM_001378471.1:c.1237_1238insC NP_001365400.1:p.Trp413SerfsTer5
NM_001378472.1:c.1192_1193insC NP_001365401.1:p.Trp398SerfsTer5
NM_001378473.1:c.1192_1193insC NP_001365402.1:p.Trp398SerfsTer5
NM_001378474.1:c.1348_1349insC NP_001365403.1:p.Trp450SerfsTer5
NM_001378475.1:c.1084_1085insC NP_001365404.1:p.Trp362SerfsTer5