Canonical Allele Identifier: CA2580077592
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711749
ClinVar RCV Id: RCV002293294

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781654_140781655insG , CM000669.2:g.140781654_140781655insG GRCh38
NC_000007.13:g.140481454_140481455insG , CM000669.1:g.140481454_140481455insG GRCh37
NC_000007.12:g.140127923_140127924insG NCBI36
NG_007873.3:g.148110_148111insC , LRG_299:g.148110_148111insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1353_1354insC MANE Select ENSP00000493543.1:p.Ile452HisfsTer3
ENST00000288602.11:c.1473_1474insC ENSP00000288602.7:p.Ile492HisfsTer3
ENST00000479537.6:c.23_24insC
ENST00000496384.7:c.1353_1354insC ENSP00000419060.2:p.Ile452HisfsTer3
ENST00000497784.2:c.*803_*804insC ENSP00000420119.2:n.*803_*804insC
ENST00000642228.1:c.*431_*432insC ENSP00000493678.1:n.*431_*432insC
ENST00000642875.1:n.795_796insC
ENST00000644120.1:n.1743_1744insC
ENST00000644650.1:c.449_450insC
ENST00000644905.1:n.1442_1443insC
ENST00000644969.2:c.1473_1474insC MANE Plus Clinical ENSP00000496776.1:p.Ile492HisfsTer3
ENST00000646334.1:n.483_484insC
ENST00000646730.1:c.1353_1354insC ENSP00000494784.1:p.Ile452HisfsTer3
ENST00000646891.1:c.1353_1354insC ENSP00000493543.1:p.Ile452HisfsTer3
ENST00000647434.1:c.396_397insC ENSP00000495132.1:p.Ile133HisfsTer3
ENST00000288602.10:c.1353_1354insC ENSP00000288602.6:p.Ile452HisfsTer3
ENST00000496384.6:c.176_177insC
ENST00000497784.1:c.1388_1389insC ENSP00000420119.1:n.1388_1389insC
NM_004333.4:c.1353_1354insC , LRG_299t1:c.1353_1354insC NP_004324.2:p.Ile452HisfsTer3
XM_005250045.1:c.1353_1354insC XP_005250102.1:p.Ile452HisfsTer3
XM_005250046.1:c.1353_1354insC XP_005250103.1:p.Ile452HisfsTer3
XM_011516529.1:c.1353_1354insC XP_011514831.1:p.Ile452HisfsTer3
XM_011516530.1:c.1353_1354insC XP_011514832.1:p.Ile452HisfsTer3
XR_242190.1:n.1361_1362insC
XR_927520.1:n.1361_1362insC
XR_927521.1:n.1361_1362insC
XR_927522.1:n.1361_1362insC
XR_927523.1:n.1361_1362insC
NM_001354609.1:c.1353_1354insC NP_001341538.1:p.Ile452HisfsTer3
NM_004333.5:c.1353_1354insC NP_004324.2:p.Ile452HisfsTer3
NR_148928.1:n.1658_1659insC
XM_017012558.1:c.1473_1474insC XP_016868047.1:p.Ile492HisfsTer3
XM_017012559.1:c.1473_1474insC XP_016868048.1:p.Ile492HisfsTer3
XR_001744857.1:n.1481_1482insC
XR_001744858.1:n.1481_1482insC
NM_001354609.2:c.1353_1354insC NP_001341538.1:p.Ile452HisfsTer3
NM_001374244.1:c.1473_1474insC NP_001361173.1:p.Ile492HisfsTer3
NM_001374258.1:c.1473_1474insC MANE Plus Clinical NP_001361187.1:p.Ile492HisfsTer3
NM_004333.6:c.1353_1354insC MANE Select NP_004324.2:p.Ile452HisfsTer3
NM_001378467.1:c.1362_1363insC NP_001365396.1:p.Ile455HisfsTer3
NM_001378468.1:c.1353_1354insC NP_001365397.1:p.Ile452HisfsTer3
NM_001378469.1:c.1287_1288insC NP_001365398.1:p.Ile430HisfsTer3
NM_001378470.1:c.1251_1252insC NP_001365399.1:p.Ile418HisfsTer3
NM_001378471.1:c.1242_1243insC NP_001365400.1:p.Ile415HisfsTer3
NM_001378472.1:c.1197_1198insC NP_001365401.1:p.Ile400HisfsTer3
NM_001378473.1:c.1197_1198insC NP_001365402.1:p.Ile400HisfsTer3
NM_001378474.1:c.1353_1354insC NP_001365403.1:p.Ile452HisfsTer3
NM_001378475.1:c.1089_1090insC NP_001365404.1:p.Ile364HisfsTer3