Canonical Allele Identifier: CA2580077585
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1711811
ClinVar RCV Id: RCV002293356

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781635del , CM000669.2:g.140781635del GRCh38
NC_000007.13:g.140481435del , CM000669.1:g.140481435del GRCh37
NC_000007.12:g.140127904del NCBI36
NG_007873.3:g.148130del , LRG_299:g.148130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1373del MANE Select ENSP00000493543.1:p.Thr458LysfsTer25
ENST00000288602.11:c.1493del ENSP00000288602.7:p.Thr498LysfsTer25
ENST00000479537.6:c.43del
ENST00000496384.7:c.1373del ENSP00000419060.2:p.Thr458LysfsTer25
ENST00000497784.2:c.*823del ENSP00000420119.2:n.*823del
ENST00000642228.1:c.*451del ENSP00000493678.1:n.*451del
ENST00000642875.1:n.815del
ENST00000644120.1:n.1763del
ENST00000644650.1:c.469del
ENST00000644905.1:n.1462del
ENST00000644969.2:c.1493del MANE Plus Clinical ENSP00000496776.1:p.Thr498LysfsTer25
ENST00000646334.1:n.503del
ENST00000646730.1:c.1373del ENSP00000494784.1:p.Thr458LysfsTer25
ENST00000646891.1:c.1373del ENSP00000493543.1:p.Thr458LysfsTer25
ENST00000647434.1:c.416del ENSP00000495132.1:p.Thr139LysfsTer25
ENST00000288602.10:c.1373del ENSP00000288602.6:p.Thr458LysfsTer25
ENST00000496384.6:c.196del
ENST00000497784.1:c.1408del ENSP00000420119.1:n.1408del
NM_004333.4:c.1373del , LRG_299t1:c.1373del NP_004324.2:p.Thr458LysfsTer25
XM_005250045.1:c.1373del XP_005250102.1:p.Thr458LysfsTer25
XM_005250046.1:c.1373del XP_005250103.1:p.Thr458LysfsTer25
XM_011516529.1:c.1373del XP_011514831.1:p.Thr458LysfsTer25
XM_011516530.1:c.1373del XP_011514832.1:p.Thr458LysfsTer25
XR_242190.1:n.1381del
XR_927520.1:n.1381del
XR_927521.1:n.1381del
XR_927522.1:n.1381del
XR_927523.1:n.1381del
NM_001354609.1:c.1373del NP_001341538.1:p.Thr458LysfsTer25
NM_004333.5:c.1373del NP_004324.2:p.Thr458LysfsTer25
NR_148928.1:n.1678del
XM_017012558.1:c.1493del XP_016868047.1:p.Thr498LysfsTer25
XM_017012559.1:c.1493del XP_016868048.1:p.Thr498LysfsTer25
XR_001744857.1:n.1501del
XR_001744858.1:n.1501del
NM_001354609.2:c.1373del NP_001341538.1:p.Thr458LysfsTer25
NM_001374244.1:c.1493del NP_001361173.1:p.Thr498LysfsTer25
NM_001374258.1:c.1493del MANE Plus Clinical NP_001361187.1:p.Thr498LysfsTer25
NM_004333.6:c.1373del MANE Select NP_004324.2:p.Thr458LysfsTer25
NM_001378467.1:c.1382del NP_001365396.1:p.Thr461LysfsTer25
NM_001378468.1:c.1373del NP_001365397.1:p.Thr458LysfsTer25
NM_001378469.1:c.1307del NP_001365398.1:p.Thr436LysfsTer25
NM_001378470.1:c.1271del NP_001365399.1:p.Thr424LysfsTer25
NM_001378471.1:c.1262del NP_001365400.1:p.Thr421LysfsTer25
NM_001378472.1:c.1217del NP_001365401.1:p.Thr406LysfsTer25
NM_001378473.1:c.1217del NP_001365402.1:p.Thr406LysfsTer25
NM_001378474.1:c.1373del NP_001365403.1:p.Thr458LysfsTer25
NM_001378475.1:c.1109del NP_001365404.1:p.Thr370LysfsTer25