Canonical Allele Identifier: CA2580077594
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711824
ClinVar RCV Id: RCV002293369

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781659dup , CM000669.2:g.140781659dup GRCh38
NC_000007.13:g.140481459dup , CM000669.1:g.140481459dup GRCh37
NC_000007.12:g.140127928dup NCBI36
NG_007873.3:g.148108dup , LRG_299:g.148108dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1351dup MANE Select ENSP00000493543.1:p.Glu451GlyfsTer4
ENST00000288602.11:c.1471dup ENSP00000288602.7:p.Glu491GlyfsTer4
ENST00000479537.6:c.21dup
ENST00000496384.7:c.1351dup ENSP00000419060.2:p.Glu451GlyfsTer4
ENST00000497784.2:c.*801dup ENSP00000420119.2:n.*801dup
ENST00000642228.1:c.*429dup ENSP00000493678.1:n.*429dup
ENST00000642875.1:n.793dup
ENST00000644120.1:n.1741dup
ENST00000644650.1:c.447dup
ENST00000644905.1:n.1440dup
ENST00000644969.2:c.1471dup MANE Plus Clinical ENSP00000496776.1:p.Glu491GlyfsTer4
ENST00000646334.1:n.481dup
ENST00000646730.1:c.1351dup ENSP00000494784.1:p.Glu451GlyfsTer4
ENST00000646891.1:c.1351dup ENSP00000493543.1:p.Glu451GlyfsTer4
ENST00000647434.1:c.394dup ENSP00000495132.1:p.Glu132GlyfsTer4
ENST00000288602.10:c.1351dup ENSP00000288602.6:p.Glu451GlyfsTer4
ENST00000496384.6:c.174dup
ENST00000497784.1:c.1386dup ENSP00000420119.1:n.1386dup
NM_004333.4:c.1351dup , LRG_299t1:c.1351dup NP_004324.2:p.Glu451GlyfsTer4
XM_005250045.1:c.1351dup XP_005250102.1:p.Glu451GlyfsTer4
XM_005250046.1:c.1351dup XP_005250103.1:p.Glu451GlyfsTer4
XM_011516529.1:c.1351dup XP_011514831.1:p.Glu451GlyfsTer4
XM_011516530.1:c.1351dup XP_011514832.1:p.Glu451GlyfsTer4
XR_242190.1:n.1359dup
XR_927520.1:n.1359dup
XR_927521.1:n.1359dup
XR_927522.1:n.1359dup
XR_927523.1:n.1359dup
NM_001354609.1:c.1351dup NP_001341538.1:p.Glu451GlyfsTer4
NM_004333.5:c.1351dup NP_004324.2:p.Glu451GlyfsTer4
NR_148928.1:n.1656dup
XM_017012558.1:c.1471dup XP_016868047.1:p.Glu491GlyfsTer4
XM_017012559.1:c.1471dup XP_016868048.1:p.Glu491GlyfsTer4
XR_001744857.1:n.1479dup
XR_001744858.1:n.1479dup
NM_001354609.2:c.1351dup NP_001341538.1:p.Glu451GlyfsTer4
NM_001374244.1:c.1471dup NP_001361173.1:p.Glu491GlyfsTer4
NM_001374258.1:c.1471dup MANE Plus Clinical NP_001361187.1:p.Glu491GlyfsTer4
NM_004333.6:c.1351dup MANE Select NP_004324.2:p.Glu451GlyfsTer4
NM_001378467.1:c.1360dup NP_001365396.1:p.Glu454GlyfsTer4
NM_001378468.1:c.1351dup NP_001365397.1:p.Glu451GlyfsTer4
NM_001378469.1:c.1285dup NP_001365398.1:p.Glu429GlyfsTer4
NM_001378470.1:c.1249dup NP_001365399.1:p.Glu417GlyfsTer4
NM_001378471.1:c.1240dup NP_001365400.1:p.Glu414GlyfsTer4
NM_001378472.1:c.1195dup NP_001365401.1:p.Glu399GlyfsTer4
NM_001378473.1:c.1195dup NP_001365402.1:p.Glu399GlyfsTer4
NM_001378474.1:c.1351dup NP_001365403.1:p.Glu451GlyfsTer4
NM_001378475.1:c.1087dup NP_001365404.1:p.Glu363GlyfsTer4