Canonical Allele Identifier: CA2580077586
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711061
ClinVar RCV Id: RCV002292348

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781638del , CM000669.2:g.140781638del GRCh38
NC_000007.13:g.140481438del , CM000669.1:g.140481438del GRCh37
NC_000007.12:g.140127907del NCBI36
NG_007873.3:g.148128del , LRG_299:g.148128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1371del MANE Select ENSP00000493543.1:p.Thr458GlnfsTer25
ENST00000288602.11:c.1491del ENSP00000288602.7:p.Thr498GlnfsTer25
ENST00000479537.6:c.41del
ENST00000496384.7:c.1371del ENSP00000419060.2:p.Thr458GlnfsTer25
ENST00000497784.2:c.*821del ENSP00000420119.2:n.*821del
ENST00000642228.1:c.*449del ENSP00000493678.1:n.*449del
ENST00000642875.1:n.813del
ENST00000644120.1:n.1761del
ENST00000644650.1:c.467del
ENST00000644905.1:n.1460del
ENST00000644969.2:c.1491del MANE Plus Clinical ENSP00000496776.1:p.Thr498GlnfsTer25
ENST00000646334.1:n.501del
ENST00000646730.1:c.1371del ENSP00000494784.1:p.Thr458GlnfsTer25
ENST00000646891.1:c.1371del ENSP00000493543.1:p.Thr458GlnfsTer25
ENST00000647434.1:c.414del ENSP00000495132.1:p.Thr139GlnfsTer25
ENST00000288602.10:c.1371del ENSP00000288602.6:p.Thr458GlnfsTer25
ENST00000496384.6:c.194del
ENST00000497784.1:c.1406del ENSP00000420119.1:n.1406del
NM_004333.4:c.1371del , LRG_299t1:c.1371del NP_004324.2:p.Thr458GlnfsTer25
XM_005250045.1:c.1371del XP_005250102.1:p.Thr458GlnfsTer25
XM_005250046.1:c.1371del XP_005250103.1:p.Thr458GlnfsTer25
XM_011516529.1:c.1371del XP_011514831.1:p.Thr458GlnfsTer25
XM_011516530.1:c.1371del XP_011514832.1:p.Thr458GlnfsTer25
XR_242190.1:n.1379del
XR_927520.1:n.1379del
XR_927521.1:n.1379del
XR_927522.1:n.1379del
XR_927523.1:n.1379del
NM_001354609.1:c.1371del NP_001341538.1:p.Thr458GlnfsTer25
NM_004333.5:c.1371del NP_004324.2:p.Thr458GlnfsTer25
NR_148928.1:n.1676del
XM_017012558.1:c.1491del XP_016868047.1:p.Thr498GlnfsTer25
XM_017012559.1:c.1491del XP_016868048.1:p.Thr498GlnfsTer25
XR_001744857.1:n.1499del
XR_001744858.1:n.1499del
NM_001354609.2:c.1371del NP_001341538.1:p.Thr458GlnfsTer25
NM_001374244.1:c.1491del NP_001361173.1:p.Thr498GlnfsTer25
NM_001374258.1:c.1491del MANE Plus Clinical NP_001361187.1:p.Thr498GlnfsTer25
NM_004333.6:c.1371del MANE Select NP_004324.2:p.Thr458GlnfsTer25
NM_001378467.1:c.1380del NP_001365396.1:p.Thr461GlnfsTer25
NM_001378468.1:c.1371del NP_001365397.1:p.Thr458GlnfsTer25
NM_001378469.1:c.1305del NP_001365398.1:p.Thr436GlnfsTer25
NM_001378470.1:c.1269del NP_001365399.1:p.Thr424GlnfsTer25
NM_001378471.1:c.1260del NP_001365400.1:p.Thr421GlnfsTer25
NM_001378472.1:c.1215del NP_001365401.1:p.Thr406GlnfsTer25
NM_001378473.1:c.1215del NP_001365402.1:p.Thr406GlnfsTer25
NM_001378474.1:c.1371del NP_001365403.1:p.Thr458GlnfsTer25
NM_001378475.1:c.1107del NP_001365404.1:p.Thr370GlnfsTer25