Canonical Allele Identifier: CA1139660286
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 917757
ClinVar RCV Id: RCV001174976
dbSNP Id: rs1800883856

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781621_140781682dup , CM000669.2:g.140781621_140781682dup GRCh38
NC_000007.13:g.140481421_140481482dup , CM000669.1:g.140481421_140481482dup GRCh37
NC_000007.12:g.140127890_140127951dup NCBI36
NG_007873.3:g.148084_148145dup , LRG_299:g.148084_148145dup

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1327_1388dup MANE Select ENSP00000493543.1:p.Gly464AspfsTer40
ENST00000288602.11:c.1447_1508dup ENSP00000288602.7:p.Gly504AspfsTer40
ENST00000496384.7:c.1327_1388dup ENSP00000419060.2:p.Gly464AspfsTer40
ENST00000497784.2:c.*777_*838dup ENSP00000420119.2:n.*777_*838dup
ENST00000642228.1:c.*405_*466dup ENSP00000493678.1:n.*405_*466dup
ENST00000642875.1:n.769_830dup
ENST00000644120.1:n.1717_1778dup
ENST00000644650.1:c.423_484dup
ENST00000644905.1:n.1416_1477dup
ENST00000644969.2:c.1447_1508dup MANE Plus Clinical ENSP00000496776.1:p.Gly504AspfsTer40
ENST00000646334.1:n.457_518dup
ENST00000646730.1:c.1327_1388dup ENSP00000494784.1:p.Gly464AspfsTer40
ENST00000646891.1:c.1327_1388dup ENSP00000493543.1:p.Gly464AspfsTer40
ENST00000647434.1:c.370_431dup ENSP00000495132.1:p.Gly145AspfsTer40
ENST00000288602.10:c.1327_1388dup ENSP00000288602.6:p.Gly464AspfsTer40
ENST00000496384.6:c.150_211dup
ENST00000497784.1:c.1362_1423dup ENSP00000420119.1:n.1362_1423dup
NM_004333.4:c.1327_1388dup , LRG_299t1:c.1327_1388dup NP_004324.2:p.Gly464AspfsTer40
XM_005250045.1:c.1327_1388dup XP_005250102.1:p.Gly464AspfsTer40
XM_005250046.1:c.1327_1388dup XP_005250103.1:p.Gly464AspfsTer40
XM_011516529.1:c.1327_1388dup XP_011514831.1:p.Gly464AspfsTer40
XM_011516530.1:c.1327_1388dup XP_011514832.1:p.Gly464AspfsTer40
XR_242190.1:n.1335_1396dup
XR_927520.1:n.1335_1396dup
XR_927521.1:n.1335_1396dup
XR_927522.1:n.1335_1396dup
XR_927523.1:n.1335_1396dup
NM_001354609.1:c.1327_1388dup NP_001341538.1:p.Gly464AspfsTer40
NM_004333.5:c.1327_1388dup NP_004324.2:p.Gly464AspfsTer40
NR_148928.1:n.1632_1693dup
XM_017012558.1:c.1447_1508dup XP_016868047.1:p.Gly504AspfsTer40
XM_017012559.1:c.1447_1508dup XP_016868048.1:p.Gly504AspfsTer40
XR_001744857.1:n.1455_1516dup
XR_001744858.1:n.1455_1516dup
NM_001354609.2:c.1327_1388dup NP_001341538.1:p.Gly464AspfsTer40
NM_001374244.1:c.1447_1508dup NP_001361173.1:p.Gly504AspfsTer40
NM_001374258.1:c.1447_1508dup MANE Plus Clinical NP_001361187.1:p.Gly504AspfsTer40
NM_004333.6:c.1327_1388dup MANE Select NP_004324.2:p.Gly464AspfsTer40
NM_001378467.1:c.1336_1397dup NP_001365396.1:p.Gly467AspfsTer40
NM_001378468.1:c.1327_1388dup NP_001365397.1:p.Gly464AspfsTer40
NM_001378469.1:c.1261_1322dup NP_001365398.1:p.Gly442AspfsTer40
NM_001378470.1:c.1225_1286dup NP_001365399.1:p.Gly430AspfsTer40
NM_001378471.1:c.1216_1277dup NP_001365400.1:p.Gly427AspfsTer40
NM_001378472.1:c.1171_1232dup NP_001365401.1:p.Gly412AspfsTer40
NM_001378473.1:c.1171_1232dup NP_001365402.1:p.Gly412AspfsTer40
NM_001378474.1:c.1327_1388dup NP_001365403.1:p.Gly464AspfsTer40
NM_001378475.1:c.1063_1124dup NP_001365404.1:p.Gly376AspfsTer40