Canonical Allele Identifier: CA2580077587
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711753
ClinVar RCV Id: RCV002293298

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781640dup , CM000669.2:g.140781640dup GRCh38
NC_000007.13:g.140481440dup , CM000669.1:g.140481440dup GRCh37
NC_000007.12:g.140127909dup NCBI36
NG_007873.3:g.148125dup , LRG_299:g.148125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1368dup MANE Select ENSP00000493543.1:p.Ile457AspfsTer23
ENST00000288602.11:c.1488dup ENSP00000288602.7:p.Ile497AspfsTer23
ENST00000479537.6:c.38dup
ENST00000496384.7:c.1368dup ENSP00000419060.2:p.Ile457AspfsTer23
ENST00000497784.2:c.*818dup ENSP00000420119.2:n.*818dup
ENST00000642228.1:c.*446dup ENSP00000493678.1:n.*446dup
ENST00000642875.1:n.810dup
ENST00000644120.1:n.1758dup
ENST00000644650.1:c.464dup
ENST00000644905.1:n.1457dup
ENST00000644969.2:c.1488dup MANE Plus Clinical ENSP00000496776.1:p.Ile497AspfsTer23
ENST00000646334.1:n.498dup
ENST00000646730.1:c.1368dup ENSP00000494784.1:p.Ile457AspfsTer23
ENST00000646891.1:c.1368dup ENSP00000493543.1:p.Ile457AspfsTer23
ENST00000647434.1:c.411dup ENSP00000495132.1:p.Ile138AspfsTer23
ENST00000288602.10:c.1368dup ENSP00000288602.6:p.Ile457AspfsTer23
ENST00000496384.6:c.191dup
ENST00000497784.1:c.1403dup ENSP00000420119.1:n.1403dup
NM_004333.4:c.1368dup , LRG_299t1:c.1368dup NP_004324.2:p.Ile457AspfsTer23
XM_005250045.1:c.1368dup XP_005250102.1:p.Ile457AspfsTer23
XM_005250046.1:c.1368dup XP_005250103.1:p.Ile457AspfsTer23
XM_011516529.1:c.1368dup XP_011514831.1:p.Ile457AspfsTer23
XM_011516530.1:c.1368dup XP_011514832.1:p.Ile457AspfsTer23
XR_242190.1:n.1376dup
XR_927520.1:n.1376dup
XR_927521.1:n.1376dup
XR_927522.1:n.1376dup
XR_927523.1:n.1376dup
NM_001354609.1:c.1368dup NP_001341538.1:p.Ile457AspfsTer23
NM_004333.5:c.1368dup NP_004324.2:p.Ile457AspfsTer23
NR_148928.1:n.1673dup
XM_017012558.1:c.1488dup XP_016868047.1:p.Ile497AspfsTer23
XM_017012559.1:c.1488dup XP_016868048.1:p.Ile497AspfsTer23
XR_001744857.1:n.1496dup
XR_001744858.1:n.1496dup
NM_001354609.2:c.1368dup NP_001341538.1:p.Ile457AspfsTer23
NM_001374244.1:c.1488dup NP_001361173.1:p.Ile497AspfsTer23
NM_001374258.1:c.1488dup MANE Plus Clinical NP_001361187.1:p.Ile497AspfsTer23
NM_004333.6:c.1368dup MANE Select NP_004324.2:p.Ile457AspfsTer23
NM_001378467.1:c.1377dup NP_001365396.1:p.Ile460AspfsTer23
NM_001378468.1:c.1368dup NP_001365397.1:p.Ile457AspfsTer23
NM_001378469.1:c.1302dup NP_001365398.1:p.Ile435AspfsTer23
NM_001378470.1:c.1266dup NP_001365399.1:p.Ile423AspfsTer23
NM_001378471.1:c.1257dup NP_001365400.1:p.Ile420AspfsTer23
NM_001378472.1:c.1212dup NP_001365401.1:p.Ile405AspfsTer23
NM_001378473.1:c.1212dup NP_001365402.1:p.Ile405AspfsTer23
NM_001378474.1:c.1368dup NP_001365403.1:p.Ile457AspfsTer23
NM_001378475.1:c.1104dup NP_001365404.1:p.Ile369AspfsTer23