Canonical Allele Identifier: CA251212

Gene: BRAF

Linked Data

• ClinVar Variation Id: 162793
• ClinVar RCV Id: RCV000150195 ; RCV000515781 ; RCV001091496
• dbSNP Id: rs727502902
• COSMIC: COSM30730
• MyVariant Identifiers: chr7:g.140453139_140453141dupGTA (hg19) ; chr7:g.140453138_140453139insGTA (hg19) ; chr7:g.140753339_140753341dupGTA (hg38) ; chr7:g.140753338_140753339insGTA (hg38)
• PubMed: PMID:19363522 ; PMID:19794125 ; PMID:21190184 ; PMID:21343559 ; PMID:21716161 ; PMID:22535154 ; PMID:29434027

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753340_140753342dup , CM000669.2:g.140753340_140753342dup	GRCh38
NC_000007.13:g.140453140_140453142dup , CM000669.1:g.140453140_140453142dup	GRCh37
NC_000007.12:g.140099609_140099611dup	NCBI36
NG_007873.3:g.176424_176426dup , LRG_299:g.176424_176426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1794_1796dup MANE Select	ENSP00000493543.1:p.Thr599_Val600insThr
ENST00000288602.11:c.1914_1916dup	ENSP00000288602.7:p.Thr639_Val640insThr
ENST00000479537.6:c.464_466dup
ENST00000496384.7:c.1794_1796dup	ENSP00000419060.2:p.Thr599_Val600insThr
ENST00000497784.2:c.*1244_*1246dup	ENSP00000420119.2:n.*1244_*1246dup
ENST00000642228.1:c.*872_*874dup	ENSP00000493678.1:n.*872_*874dup
ENST00000642875.1:n.1259-3923_1259-3921dup
ENST00000644120.1:n.2184_2186dup
ENST00000644650.1:c.890_892dup
ENST00000644905.1:n.2676_2678dup
ENST00000644969.2:c.1914_1916dup MANE Plus Clinical	ENSP00000496776.1:p.Thr639_Val640insThr
ENST00000646730.1:c.*370_*372dup	ENSP00000494784.1:n.*370_*372dup
ENST00000646891.1:c.1794_1796dup	ENSP00000493543.1:p.Thr599_Val600insThr
ENST00000647434.1:c.738-3923_738-3921dup	ENSP00000495132.1:n.738-3923_738-3921dup
ENST00000288602.10:c.1794_1796dup	ENSP00000288602.6:p.Thr599_Val600insThr
ENST00000479537.5:c.78_80dup	ENSP00000418033.1:p.Thr27_Val28insThr
ENST00000496384.6:c.617_619dup
ENST00000497784.1:c.1829_1831dup	ENSP00000420119.1:n.1829_1831dup
NM_004333.4:c.1794_1796dup , LRG_299t1:c.1794_1796dup	NP_004324.2:p.Thr599_Val600insThr
XM_005250045.1:c.1794_1796dup	XP_005250102.1:p.Thr599_Val600insThr
XM_005250046.1:c.1794_1796dup	XP_005250103.1:p.Thr599_Val600insThr
XM_011516529.1:c.1794_1796dup	XP_011514831.1:p.Thr599_Val600insThr
XM_011516530.1:c.1695-3923_1695-3921dup	XP_011514832.1:n.1695-3923_1695-3921dup
XR_242190.1:n.1802_1804dup
XR_927520.1:n.1802_1804dup
XR_927521.1:n.1802_1804dup
XR_927522.1:n.1703-3923_1703-3921dup
XR_927523.1:n.1703-3923_1703-3921dup
NM_001354609.1:c.1794_1796dup	NP_001341538.1:p.Thr599_Val600insThr
NM_004333.5:c.1794_1796dup	NP_004324.2:p.Thr599_Val600insThr
NR_148928.1:n.2892_2894dup
XM_017012558.1:c.1914_1916dup	XP_016868047.1:p.Thr639_Val640insThr
XM_017012559.1:c.1914_1916dup	XP_016868048.1:p.Thr639_Val640insThr
XR_001744857.1:n.1922_1924dup
XR_001744858.1:n.1823-3923_1823-3921dup
NM_001354609.2:c.1794_1796dup	NP_001341538.1:p.Thr599_Val600insThr
NM_001374244.1:c.1914_1916dup	NP_001361173.1:p.Thr639_Val640insThr
NM_001374258.1:c.1914_1916dup MANE Plus Clinical	NP_001361187.1:p.Thr639_Val640insThr
NM_004333.6:c.1794_1796dup MANE Select	NP_004324.2:p.Thr599_Val600insThr
NM_001378467.1:c.1803_1805dup	NP_001365396.1:p.Thr602_Val603insThr
NM_001378468.1:c.1794_1796dup	NP_001365397.1:p.Thr599_Val600insThr
NM_001378469.1:c.1728_1730dup	NP_001365398.1:p.Thr577_Val578insThr
NM_001378470.1:c.1692_1694dup	NP_001365399.1:p.Thr565_Val566insThr
NM_001378471.1:c.1683_1685dup	NP_001365400.1:p.Thr562_Val563insThr
NM_001378472.1:c.1638_1640dup	NP_001365401.1:p.Thr547_Val548insThr
NM_001378473.1:c.1638_1640dup	NP_001365402.1:p.Thr547_Val548insThr
NM_001378474.1:c.1794_1796dup	NP_001365403.1:p.Thr599_Val600insThr
NM_001378475.1:c.1530_1532dup	NP_001365404.1:p.Thr511_Val512insThr