Canonical Allele Identifier: CA16602419
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 375939
ClinVar RCV Id: RCV000423512
dbSNP Id: rs121913377
COSMIC: COSM477

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753335_140753336delinsAT , CM000669.2:g.140753335_140753336delinsAT GRCh38
NC_000007.13:g.140453135_140453136delinsAT , CM000669.1:g.140453135_140453136delinsAT GRCh37
NC_000007.12:g.140099604_140099605delinsAT NCBI36
NG_007873.3:g.176429_176430delinsAT , LRG_299:g.176429_176430delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1799_1800delinsAT MANE Select ENSP00000493543.1:p.Val600Asp
ENST00000288602.11:c.1919_1920delinsAT ENSP00000288602.7:p.Val640Asp
ENST00000479537.6:c.469_470delinsAT
ENST00000496384.7:c.1799_1800delinsAT ENSP00000419060.2:p.Val600Asp
ENST00000497784.2:c.*1249_*1250delinsAT ENSP00000420119.2:n.*1249_*1250delinsAT
ENST00000642228.1:c.*877_*878delinsAT ENSP00000493678.1:n.*877_*878delinsAT
ENST00000642875.1:n.1259-3918_1259-3917delinsAT
ENST00000644120.1:n.2189_2190delinsAT
ENST00000644650.1:c.895_896delinsAT
ENST00000644905.1:n.2681_2682delinsAT
ENST00000644969.2:c.1919_1920delinsAT MANE Plus Clinical ENSP00000496776.1:p.Val640Asp
ENST00000646730.1:c.*375_*376delinsAT ENSP00000494784.1:n.*375_*376delinsAT
ENST00000646891.1:c.1799_1800delinsAT ENSP00000493543.1:p.Val600Asp
ENST00000647434.1:c.738-3918_738-3917delinsAT ENSP00000495132.1:n.738-3918_738-3917delinsAT
ENST00000288602.10:c.1799_1800delinsAT ENSP00000288602.6:p.Val600Asp
ENST00000479537.5:c.83_84delinsAT ENSP00000418033.1:p.Val28Asp
ENST00000496384.6:c.622_623delinsAT
ENST00000497784.1:c.1834_1835delinsAT ENSP00000420119.1:n.1834_1835delinsAT
NM_004333.4:c.1799_1800delinsAT , LRG_299t1:c.1799_1800delinsAT NP_004324.2:p.Val600Asp
XM_005250045.1:c.1799_1800delinsAT XP_005250102.1:p.Val600Asp
XM_005250046.1:c.1799_1800delinsAT XP_005250103.1:p.Val600Asp
XM_011516529.1:c.1799_1800delinsAT XP_011514831.1:p.Val600Asp
XM_011516530.1:c.1695-3918_1695-3917delinsAT XP_011514832.1:n.1695-3918_1695-3917delinsAT
XR_242190.1:n.1807_1808delinsAT
XR_927520.1:n.1807_1808delinsAT
XR_927521.1:n.1807_1808delinsAT
XR_927522.1:n.1703-3918_1703-3917delinsAT
XR_927523.1:n.1703-3918_1703-3917delinsAT
NM_001354609.1:c.1799_1800delinsAT NP_001341538.1:p.Val600Asp
NM_004333.5:c.1799_1800delinsAT NP_004324.2:p.Val600Asp
NR_148928.1:n.2897_2898delinsAT
XM_017012558.1:c.1919_1920delinsAT XP_016868047.1:p.Val640Asp
XM_017012559.1:c.1919_1920delinsAT XP_016868048.1:p.Val640Asp
XR_001744857.1:n.1927_1928delinsAT
XR_001744858.1:n.1823-3918_1823-3917delinsAT
NM_001354609.2:c.1799_1800delinsAT NP_001341538.1:p.Val600Asp
NM_001374244.1:c.1919_1920delinsAT NP_001361173.1:p.Val640Asp
NM_001374258.1:c.1919_1920delinsAT MANE Plus Clinical NP_001361187.1:p.Val640Asp
NM_004333.6:c.1799_1800delinsAT MANE Select NP_004324.2:p.Val600Asp
NM_001378467.1:c.1808_1809delinsAT NP_001365396.1:p.Val603Asp
NM_001378468.1:c.1799_1800delinsAT NP_001365397.1:p.Val600Asp
NM_001378469.1:c.1733_1734delinsAT NP_001365398.1:p.Val578Asp
NM_001378470.1:c.1697_1698delinsAT NP_001365399.1:p.Val566Asp
NM_001378471.1:c.1688_1689delinsAT NP_001365400.1:p.Val563Asp
NM_001378472.1:c.1643_1644delinsAT NP_001365401.1:p.Val548Asp
NM_001378473.1:c.1643_1644delinsAT NP_001365402.1:p.Val548Asp
NM_001378474.1:c.1799_1800delinsAT NP_001365403.1:p.Val600Asp
NM_001378475.1:c.1535_1536delinsAT NP_001365404.1:p.Val512Asp