Canonical Allele Identifier: CA1139660285
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 976167
ClinVar RCV Id: RCV001253374
dbSNP Id: rs1800500908

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140778032_140778034del , CM000669.2:g.140778032_140778034del GRCh38
NC_000007.13:g.140477832_140477834del , CM000669.1:g.140477832_140477834del GRCh37
NC_000007.12:g.140124301_140124303del NCBI36
NG_007873.3:g.151732_151734del , LRG_299:g.151732_151734del

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1475_1477del MANE Select ENSP00000493543.1:p.Pro492del
ENST00000288602.11:c.1595_1597del ENSP00000288602.7:p.Pro532del
ENST00000479537.6:c.145_147del
ENST00000496384.7:c.1475_1477del ENSP00000419060.2:p.Pro492del
ENST00000497784.2:c.*925_*927del ENSP00000420119.2:n.*925_*927del
ENST00000642228.1:c.*553_*555del ENSP00000493678.1:n.*553_*555del
ENST00000642875.1:n.1039_1041del
ENST00000644120.1:n.1865_1867del
ENST00000644650.1:c.571_573del
ENST00000644905.1:n.1564_1566del
ENST00000644969.2:c.1595_1597del MANE Plus Clinical ENSP00000496776.1:p.Pro532del
ENST00000646730.1:c.1475_1477del ENSP00000494784.1:p.Pro492del
ENST00000646891.1:c.1475_1477del ENSP00000493543.1:p.Pro492del
ENST00000647434.1:c.518_520del ENSP00000495132.1:p.Pro173del
ENST00000288602.10:c.1475_1477del ENSP00000288602.6:p.Pro492del
ENST00000496384.6:c.298_300del
ENST00000497784.1:c.1510_1512del ENSP00000420119.1:n.1510_1512del
NM_004333.4:c.1475_1477del , LRG_299t1:c.1475_1477del NP_004324.2:p.Pro492del
XM_005250045.1:c.1475_1477del XP_005250102.1:p.Pro492del
XM_005250046.1:c.1475_1477del XP_005250103.1:p.Pro492del
XM_011516529.1:c.1475_1477del XP_011514831.1:p.Pro492del
XM_011516530.1:c.1475_1477del XP_011514832.1:p.Pro492del
XR_242190.1:n.1483_1485del
XR_927520.1:n.1483_1485del
XR_927521.1:n.1483_1485del
XR_927522.1:n.1483_1485del
XR_927523.1:n.1483_1485del
NM_001354609.1:c.1475_1477del NP_001341538.1:p.Pro492del
NM_004333.5:c.1475_1477del NP_004324.2:p.Pro492del
NR_148928.1:n.1780_1782del
XM_017012558.1:c.1595_1597del XP_016868047.1:p.Pro532del
XM_017012559.1:c.1595_1597del XP_016868048.1:p.Pro532del
XR_001744857.1:n.1603_1605del
XR_001744858.1:n.1603_1605del
NM_001354609.2:c.1475_1477del NP_001341538.1:p.Pro492del
NM_001374244.1:c.1595_1597del NP_001361173.1:p.Pro532del
NM_001374258.1:c.1595_1597del MANE Plus Clinical NP_001361187.1:p.Pro532del
NM_004333.6:c.1475_1477del MANE Select NP_004324.2:p.Pro492del
NM_001378467.1:c.1484_1486del NP_001365396.1:p.Pro495del
NM_001378468.1:c.1475_1477del NP_001365397.1:p.Pro492del
NM_001378469.1:c.1409_1411del NP_001365398.1:p.Pro470del
NM_001378470.1:c.1373_1375del NP_001365399.1:p.Pro458del
NM_001378471.1:c.1364_1366del NP_001365400.1:p.Pro455del
NM_001378472.1:c.1319_1321del NP_001365401.1:p.Pro440del
NM_001378473.1:c.1319_1321del NP_001365402.1:p.Pro440del
NM_001378474.1:c.1475_1477del NP_001365403.1:p.Pro492del
NM_001378475.1:c.1211_1213del NP_001365404.1:p.Pro404del