Canonical Allele Identifier: CA2580077583
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711760
ClinVar RCV Id: RCV002293305

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781632_140781633insG , CM000669.2:g.140781632_140781633insG GRCh38
NC_000007.13:g.140481432_140481433insG , CM000669.1:g.140481432_140481433insG GRCh37
NC_000007.12:g.140127901_140127902insG NCBI36
NG_007873.3:g.148132_148133insC , LRG_299:g.148132_148133insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1375_1376insC MANE Select ENSP00000493543.1:p.Val459AlafsTer21
ENST00000288602.11:c.1495_1496insC ENSP00000288602.7:p.Val499AlafsTer21
ENST00000479537.6:c.45_46insC
ENST00000496384.7:c.1375_1376insC ENSP00000419060.2:p.Val459AlafsTer21
ENST00000497784.2:c.*825_*826insC ENSP00000420119.2:n.*825_*826insC
ENST00000642228.1:c.*453_*454insC ENSP00000493678.1:n.*453_*454insC
ENST00000642875.1:n.817_818insC
ENST00000644120.1:n.1765_1766insC
ENST00000644650.1:c.471_472insC
ENST00000644905.1:n.1464_1465insC
ENST00000644969.2:c.1495_1496insC MANE Plus Clinical ENSP00000496776.1:p.Val499AlafsTer21
ENST00000646334.1:n.505_506insC
ENST00000646730.1:c.1375_1376insC ENSP00000494784.1:p.Val459AlafsTer21
ENST00000646891.1:c.1375_1376insC ENSP00000493543.1:p.Val459AlafsTer21
ENST00000647434.1:c.418_419insC ENSP00000495132.1:p.Val140AlafsTer21
ENST00000288602.10:c.1375_1376insC ENSP00000288602.6:p.Val459AlafsTer21
ENST00000496384.6:c.198_199insC
ENST00000497784.1:c.1410_1411insC ENSP00000420119.1:n.1410_1411insC
NM_004333.4:c.1375_1376insC , LRG_299t1:c.1375_1376insC NP_004324.2:p.Val459AlafsTer21
XM_005250045.1:c.1375_1376insC XP_005250102.1:p.Val459AlafsTer21
XM_005250046.1:c.1375_1376insC XP_005250103.1:p.Val459AlafsTer21
XM_011516529.1:c.1375_1376insC XP_011514831.1:p.Val459AlafsTer21
XM_011516530.1:c.1375_1376insC XP_011514832.1:p.Val459AlafsTer21
XR_242190.1:n.1383_1384insC
XR_927520.1:n.1383_1384insC
XR_927521.1:n.1383_1384insC
XR_927522.1:n.1383_1384insC
XR_927523.1:n.1383_1384insC
NM_001354609.1:c.1375_1376insC NP_001341538.1:p.Val459AlafsTer21
NM_004333.5:c.1375_1376insC NP_004324.2:p.Val459AlafsTer21
NR_148928.1:n.1680_1681insC
XM_017012558.1:c.1495_1496insC XP_016868047.1:p.Val499AlafsTer21
XM_017012559.1:c.1495_1496insC XP_016868048.1:p.Val499AlafsTer21
XR_001744857.1:n.1503_1504insC
XR_001744858.1:n.1503_1504insC
NM_001354609.2:c.1375_1376insC NP_001341538.1:p.Val459AlafsTer21
NM_001374244.1:c.1495_1496insC NP_001361173.1:p.Val499AlafsTer21
NM_001374258.1:c.1495_1496insC MANE Plus Clinical NP_001361187.1:p.Val499AlafsTer21
NM_004333.6:c.1375_1376insC MANE Select NP_004324.2:p.Val459AlafsTer21
NM_001378467.1:c.1384_1385insC NP_001365396.1:p.Val462AlafsTer21
NM_001378468.1:c.1375_1376insC NP_001365397.1:p.Val459AlafsTer21
NM_001378469.1:c.1309_1310insC NP_001365398.1:p.Val437AlafsTer21
NM_001378470.1:c.1273_1274insC NP_001365399.1:p.Val425AlafsTer21
NM_001378471.1:c.1264_1265insC NP_001365400.1:p.Val422AlafsTer21
NM_001378472.1:c.1219_1220insC NP_001365401.1:p.Val407AlafsTer21
NM_001378473.1:c.1219_1220insC NP_001365402.1:p.Val407AlafsTer21
NM_001378474.1:c.1375_1376insC NP_001365403.1:p.Val459AlafsTer21
NM_001378475.1:c.1111_1112insC NP_001365404.1:p.Val371AlafsTer21