Canonical Allele Identifier: CA916081409

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 843965
• ClinVar RCV Id: RCV001046694
• dbSNP Id: rs2058277475

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584940_12584946dup , CM000665.2:g.12584940_12584946dup	GRCh38
NC_000003.11:g.12626439_12626445dup , CM000665.1:g.12626439_12626445dup	GRCh37
NC_000003.10:g.12601439_12601445dup	NCBI36
NG_007467.1:g.84236_84242dup , LRG_413:g.84236_84242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1371_*1377dup (RAF1)	ENSP00000401088.1:n.*1371_*1377dup
ENST00000432427.3:c.1023_1029dup (RAF1)
ENST00000460610.2:n.6018_6024dup (RAF1)
ENST00000471449.2:n.516_522dup (RAF1)
ENST00000475353.2:n.3986_3992dup (RAF1)
ENST00000684903.1:c.*1383_*1389dup (RAF1)	ENSP00000508612.1:n.*1383_*1389dup
ENST00000685348.1:c.*1417_*1423dup (RAF1)	ENSP00000510285.1:n.*1417_*1423dup
ENST00000685437.1:c.1607_1613dup (RAF1)	ENSP00000508794.1:p.Ser538ArgfsTer3
ENST00000685653.1:c.1706_1712dup (RAF1)	ENSP00000509968.1:p.Ser571ArgfsTer3
ENST00000685697.1:n.2441_2447dup (RAF1)
ENST00000685738.1:c.*670_*676dup (RAF1)	ENSP00000510156.1:n.*670_*676dup
ENST00000686409.1:n.5115_5121dup (RAF1)
ENST00000686455.1:n.4427_4433dup (RAF1)
ENST00000686762.1:c.*265_*271dup (RAF1)	ENSP00000509767.1:n.*265_*271dup
ENST00000687257.1:n.4160_4166dup (RAF1)
ENST00000687326.1:c.*2998_*3004dup (RAF1)	ENSP00000509665.1:n.*2998_*3004dup
ENST00000687505.1:n.1824_1830dup (RAF1)
ENST00000687923.1:c.1595_1601dup (RAF1)	ENSP00000510255.1:p.Ser534ArgfsTer3
ENST00000688269.1:n.2302_2308dup (RAF1)
ENST00000688444.1:n.3823_3829dup (RAF1)
ENST00000688543.1:c.1607_1613dup (RAF1)	ENSP00000509612.1:p.Ser538ArgfsTer3
ENST00000688625.1:c.*3075_*3081dup (RAF1)	ENSP00000509522.1:n.*3075_*3081dup
ENST00000688803.1:n.3134_3140dup (RAF1)
ENST00000688914.1:n.1119_1125dup (RAF1)
ENST00000689097.1:c.*1383_*1389dup (RAF1)	ENSP00000509756.1:n.*1383_*1389dup
ENST00000689389.1:c.1529_1535dup (RAF1)	ENSP00000510213.1:p.Ser512ArgfsTer3
ENST00000689418.1:c.*3601_*3607dup (RAF1)	ENSP00000509467.1:n.*3601_*3607dup
ENST00000689540.1:n.4074_4080dup (RAF1)
ENST00000689876.1:c.*255_*261dup (RAF1)	ENSP00000508535.1:n.*255_*261dup
ENST00000689914.1:c.*640_*646dup (RAF1)	ENSP00000509847.1:n.*640_*646dup
ENST00000690397.1:c.1595_1601dup (RAF1)	ENSP00000508730.1:p.Ser534ArgfsTer3
ENST00000690460.1:c.1694_1700dup (RAF1)	ENSP00000509106.1:p.Ser567ArgfsTer3
ENST00000690585.1:c.432_438dup (RAF1)
ENST00000690625.1:n.2742_2748dup (RAF1)
ENST00000691396.1:c.*1578_*1584dup (RAF1)	ENSP00000510712.1:n.*1578_*1584dup
ENST00000691643.1:n.2759_2765dup (RAF1)
ENST00000691724.1:c.*663_*669dup (RAF1)	ENSP00000509255.1:n.*663_*669dup
ENST00000691779.1:c.*1284_*1290dup (RAF1)	ENSP00000508592.1:n.*1284_*1290dup
ENST00000691888.1:c.580_586dup (RAF1)
ENST00000691899.1:c.1706_1712dup (RAF1)	ENSP00000508763.1:p.Ser571ArgfsTer3
ENST00000692069.1:n.4630_4636dup (RAF1)
ENST00000692093.1:c.1607_1613dup (RAF1)	ENSP00000509669.1:p.Ser538ArgfsTer3
ENST00000692311.1:n.2530_2536dup (RAF1)
ENST00000692558.1:n.4289_4295dup (RAF1)
ENST00000692773.1:c.*1443_*1449dup (RAF1)	ENSP00000509055.1:n.*1443_*1449dup
ENST00000692830.1:c.*1451_*1457dup (RAF1)	ENSP00000509461.1:n.*1451_*1457dup
ENST00000693312.1:c.1481_1487dup (RAF1)	ENSP00000508686.1:p.Ser496ArgfsTer3
ENST00000693664.1:c.*157_*163dup (RAF1)	ENSP00000509614.1:n.*157_*163dup
ENST00000693705.1:c.*1085_*1091dup (RAF1)	ENSP00000510697.1:n.*1085_*1091dup
ENST00000251849.9:c.1706_1712dup (RAF1) MANE Select	ENSP00000251849.4:p.Ser571ArgfsTer3
ENST00000442415.7:c.1766_1772dup (RAF1)	ENSP00000401888.2:p.Ser591ArgfsTer3
ENST00000676541.1:c.*2687_*2693dup (MKRN2)	ENSP00000503730.1:n.*2687_*2693dup
ENST00000677142.1:c.*2687_*2693dup (MKRN2)	ENSP00000504455.1:n.*2687_*2693dup
ENST00000677816.1:c.*1242_*1248dup (MKRN2)	ENSP00000502893.1:n.*1242_*1248dup
ENST00000677941.1:n.2750_2756dup (MKRN2)
ENST00000251849.8:c.1706_1712dup (RAF1)	ENSP00000251849.4:p.Ser571ArgfsTer3
ENST00000423275.5:c.*1383_*1389dup (RAF1)	ENSP00000401088.1:n.*1383_*1389dup
ENST00000432427.2:c.1343_1349dup (RAF1)	ENSP00000398591.2:p.Ser450ArgfsTer3
ENST00000442415.6:c.1766_1772dup (RAF1)	ENSP00000401888.2:p.Ser591ArgfsTer3
ENST00000471449.1:n.395_401dup (RAF1)
NM_002880.3:c.1706_1712dup , LRG_413t1:c.1706_1712dup (RAF1)	NP_002871.1:p.Ser571ArgfsTer3
XM_005265355.1:c.1706_1712dup (RAF1)	XP_005265412.1:p.Ser571ArgfsTer3
XM_005265357.1:c.1607_1613dup (RAF1)	XP_005265414.1:p.Ser538ArgfsTer3
XM_005265358.3:c.1463_1469dup (RAF1)	XP_005265415.1:p.Ser490ArgfsTer3
XM_005265359.3:c.1364_1370dup (RAF1)	XP_005265416.1:p.Ser457ArgfsTer3
XM_011533974.1:c.1706_1712dup (RAF1)	XP_011532276.1:p.Ser571ArgfsTer3
XM_011533975.1:c.1463_1469dup (RAF1)	XP_011532277.1:p.Ser490ArgfsTer3
NM_001354689.1:c.1766_1772dup (RAF1)	NP_001341618.1:p.Ser591ArgfsTer3
NM_001354690.1:c.1706_1712dup (RAF1)	NP_001341619.1:p.Ser571ArgfsTer3
NM_001354691.1:c.1463_1469dup (RAF1)	NP_001341620.1:p.Ser490ArgfsTer3
NM_001354692.1:c.1463_1469dup (RAF1)	NP_001341621.1:p.Ser490ArgfsTer3
NM_001354693.1:c.1607_1613dup (RAF1)	NP_001341622.1:p.Ser538ArgfsTer3
NM_001354694.1:c.1523_1529dup (RAF1)	NP_001341623.1:p.Ser510ArgfsTer3
NM_001354695.1:c.1364_1370dup (RAF1)	NP_001341624.1:p.Ser457ArgfsTer3
NR_148940.1:n.2234_2240dup (RAF1)
NR_148941.1:n.2180_2186dup (RAF1)
NR_148942.1:n.2119_2125dup (RAF1)
XM_011533974.3:c.1706_1712dup (RAF1)	XP_011532276.1:p.Ser571ArgfsTer3
XM_017006966.1:c.1607_1613dup (RAF1)	XP_016862455.1:p.Ser538ArgfsTer3
NM_001354689.3:c.1766_1772dup (RAF1)	NP_001341618.1:p.Ser591ArgfsTer3
NM_001354690.2:c.1706_1712dup (RAF1)	NP_001341619.1:p.Ser571ArgfsTer3
NM_001354691.2:c.1463_1469dup (RAF1)	NP_001341620.1:p.Ser490ArgfsTer3
NM_001354692.2:c.1463_1469dup (RAF1)	NP_001341621.1:p.Ser490ArgfsTer3
NM_001354693.2:c.1607_1613dup (RAF1)	NP_001341622.1:p.Ser538ArgfsTer3
NM_001354694.2:c.1523_1529dup (RAF1)	NP_001341623.1:p.Ser510ArgfsTer3
NM_001354695.2:c.1364_1370dup (RAF1)	NP_001341624.1:p.Ser457ArgfsTer3
NR_148940.2:n.2150_2156dup (RAF1)
NR_148941.2:n.2096_2102dup (RAF1)
NR_148942.2:n.2035_2041dup (RAF1)
NM_001354690.3:c.1706_1712dup (RAF1)	NP_001341619.1:p.Ser571ArgfsTer3
NM_001354691.3:c.1463_1469dup (RAF1)	NP_001341620.1:p.Ser490ArgfsTer3
NM_001354692.3:c.1463_1469dup (RAF1)	NP_001341621.1:p.Ser490ArgfsTer3
NM_001354693.3:c.1607_1613dup (RAF1)	NP_001341622.1:p.Ser538ArgfsTer3
NM_001354694.3:c.1523_1529dup (RAF1)	NP_001341623.1:p.Ser510ArgfsTer3
NM_001354695.3:c.1364_1370dup (RAF1)	NP_001341624.1:p.Ser457ArgfsTer3
NM_002880.4:c.1706_1712dup (RAF1) MANE Select	NP_002871.1:p.Ser571ArgfsTer3
NR_148940.3:n.2150_2156dup (RAF1)
NR_148941.3:n.2096_2102dup (RAF1)
NR_148942.3:n.2035_2041dup (RAF1)