Canonical Allele Identifier: CA1139657910

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 917807
• ClinVar RCV Id: RCV001175062
• dbSNP Id: rs2058275378

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584891_12584931dup , CM000665.2:g.12584891_12584931dup	GRCh38
NC_000003.11:g.12626390_12626430dup , CM000665.1:g.12626390_12626430dup	GRCh37
NC_000003.10:g.12601390_12601430dup	NCBI36
NG_007467.1:g.84250_84290dup , LRG_413:g.84250_84290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1385_*1425dup (RAF1)	ENSP00000401088.1:n.*1385_*1425dup
ENST00000432427.3:c.1037_1077dup (RAF1)
ENST00000460610.2:n.6032_6072dup (RAF1)
ENST00000471449.2:n.530_570dup (RAF1)
ENST00000475353.2:n.4000_4040dup (RAF1)
ENST00000684903.1:c.*1397_*1437dup (RAF1)	ENSP00000508612.1:n.*1397_*1437dup
ENST00000685348.1:c.*1431_*1471dup (RAF1)	ENSP00000510285.1:n.*1431_*1471dup
ENST00000685437.1:c.1621_1661dup (RAF1)	ENSP00000508794.1:p.Cys555IlefsTer8
ENST00000685653.1:c.1720_1760dup (RAF1)	ENSP00000509968.1:p.Cys588IlefsTer8
ENST00000685697.1:n.2455_2495dup (RAF1)
ENST00000685738.1:c.*684_*724dup (RAF1)	ENSP00000510156.1:n.*684_*724dup
ENST00000686409.1:n.5129_5169dup (RAF1)
ENST00000686455.1:n.4441_4481dup (RAF1)
ENST00000686762.1:c.*279_*319dup (RAF1)	ENSP00000509767.1:n.*279_*319dup
ENST00000687257.1:n.4174_4214dup (RAF1)
ENST00000687326.1:c.*3012_*3052dup (RAF1)	ENSP00000509665.1:n.*3012_*3052dup
ENST00000687505.1:n.1838_1878dup (RAF1)
ENST00000687923.1:c.1609_1649dup (RAF1)	ENSP00000510255.1:p.Cys551IlefsTer8
ENST00000688269.1:n.2316_2356dup (RAF1)
ENST00000688444.1:n.3837_3877dup (RAF1)
ENST00000688543.1:c.1621_1661dup (RAF1)	ENSP00000509612.1:p.Cys555IlefsTer8
ENST00000688625.1:c.*3089_*3129dup (RAF1)	ENSP00000509522.1:n.*3089_*3129dup
ENST00000688803.1:n.3148_3188dup (RAF1)
ENST00000688914.1:n.1133_1173dup (RAF1)
ENST00000689097.1:c.*1397_*1437dup (RAF1)	ENSP00000509756.1:n.*1397_*1437dup
ENST00000689389.1:c.1543_1583dup (RAF1)	ENSP00000510213.1:p.Cys529IlefsTer8
ENST00000689418.1:c.*3615_*3655dup (RAF1)	ENSP00000509467.1:n.*3615_*3655dup
ENST00000689540.1:n.4088_4128dup (RAF1)
ENST00000689876.1:c.*269_*309dup (RAF1)	ENSP00000508535.1:n.*269_*309dup
ENST00000689914.1:c.*654_*694dup (RAF1)	ENSP00000509847.1:n.*654_*694dup
ENST00000690397.1:c.1609_1649dup (RAF1)	ENSP00000508730.1:p.Cys551IlefsTer8
ENST00000690460.1:c.1708_1748dup (RAF1)	ENSP00000509106.1:p.Cys584IlefsTer8
ENST00000690585.1:c.446_486dup (RAF1)
ENST00000690625.1:n.2756_2796dup (RAF1)
ENST00000691396.1:c.*1592_*1632dup (RAF1)	ENSP00000510712.1:n.*1592_*1632dup
ENST00000691643.1:n.2773_2813dup (RAF1)
ENST00000691724.1:c.*677_*717dup (RAF1)	ENSP00000509255.1:n.*677_*717dup
ENST00000691779.1:c.*1298_*1338dup (RAF1)	ENSP00000508592.1:n.*1298_*1338dup
ENST00000691888.1:c.594_634dup (RAF1)
ENST00000691899.1:c.1720_1760dup (RAF1)	ENSP00000508763.1:p.Cys588IlefsTer8
ENST00000692069.1:n.4644_4684dup (RAF1)
ENST00000692093.1:c.1621_1661dup (RAF1)	ENSP00000509669.1:p.Cys555IlefsTer8
ENST00000692311.1:n.2544_2584dup (RAF1)
ENST00000692558.1:n.4303_4343dup (RAF1)
ENST00000692773.1:c.*1457_*1497dup (RAF1)	ENSP00000509055.1:n.*1457_*1497dup
ENST00000692830.1:c.*1465_*1505dup (RAF1)	ENSP00000509461.1:n.*1465_*1505dup
ENST00000693312.1:c.1495_1535dup (RAF1)	ENSP00000508686.1:p.Cys513IlefsTer8
ENST00000693664.1:c.*171_*211dup (RAF1)	ENSP00000509614.1:n.*171_*211dup
ENST00000693705.1:c.*1099_*1139dup (RAF1)	ENSP00000510697.1:n.*1099_*1139dup
ENST00000251849.9:c.1720_1760dup (RAF1) MANE Select	ENSP00000251849.4:p.Cys588IlefsTer8
ENST00000442415.7:c.1780_1820dup (RAF1)	ENSP00000401888.2:p.Cys608IlefsTer8
ENST00000676541.1:c.*2638_*2678dup (MKRN2)	ENSP00000503730.1:n.*2638_*2678dup
ENST00000677142.1:c.*2638_*2678dup (MKRN2)	ENSP00000504455.1:n.*2638_*2678dup
ENST00000677816.1:c.*1193_*1233dup (MKRN2)	ENSP00000502893.1:n.*1193_*1233dup
ENST00000677941.1:n.2701_2741dup (MKRN2)
ENST00000251849.8:c.1720_1760dup (RAF1)	ENSP00000251849.4:p.Cys588IlefsTer8
ENST00000423275.5:c.*1397_*1437dup (RAF1)	ENSP00000401088.1:n.*1397_*1437dup
ENST00000432427.2:c.1357_1397dup (RAF1)	ENSP00000398591.2:p.Cys467IlefsTer8
ENST00000442415.6:c.1780_1820dup (RAF1)	ENSP00000401888.2:p.Cys608IlefsTer8
ENST00000471449.1:n.409_449dup (RAF1)
NM_002880.3:c.1720_1760dup , LRG_413t1:c.1720_1760dup (RAF1)	NP_002871.1:p.Cys588IlefsTer8
XM_005265355.1:c.1720_1760dup (RAF1)	XP_005265412.1:p.Cys588IlefsTer8
XM_005265357.1:c.1621_1661dup (RAF1)	XP_005265414.1:p.Cys555IlefsTer8
XM_005265358.3:c.1477_1517dup (RAF1)	XP_005265415.1:p.Cys507IlefsTer8
XM_005265359.3:c.1378_1418dup (RAF1)	XP_005265416.1:p.Cys474IlefsTer8
XM_011533974.1:c.1720_1760dup (RAF1)	XP_011532276.1:p.Cys588IlefsTer8
XM_011533975.1:c.1477_1517dup (RAF1)	XP_011532277.1:p.Cys507IlefsTer8
NM_001354689.1:c.1780_1820dup (RAF1)	NP_001341618.1:p.Cys608IlefsTer8
NM_001354690.1:c.1720_1760dup (RAF1)	NP_001341619.1:p.Cys588IlefsTer8
NM_001354691.1:c.1477_1517dup (RAF1)	NP_001341620.1:p.Cys507IlefsTer8
NM_001354692.1:c.1477_1517dup (RAF1)	NP_001341621.1:p.Cys507IlefsTer8
NM_001354693.1:c.1621_1661dup (RAF1)	NP_001341622.1:p.Cys555IlefsTer8
NM_001354694.1:c.1537_1577dup (RAF1)	NP_001341623.1:p.Cys527IlefsTer8
NM_001354695.1:c.1378_1418dup (RAF1)	NP_001341624.1:p.Cys474IlefsTer8
NR_148940.1:n.2248_2288dup (RAF1)
NR_148941.1:n.2194_2234dup (RAF1)
NR_148942.1:n.2133_2173dup (RAF1)
XM_011533974.3:c.1720_1760dup (RAF1)	XP_011532276.1:p.Cys588IlefsTer8
XM_017006966.1:c.1621_1661dup (RAF1)	XP_016862455.1:p.Cys555IlefsTer8
NM_001354689.3:c.1780_1820dup (RAF1)	NP_001341618.1:p.Cys608IlefsTer8
NM_001354690.2:c.1720_1760dup (RAF1)	NP_001341619.1:p.Cys588IlefsTer8
NM_001354691.2:c.1477_1517dup (RAF1)	NP_001341620.1:p.Cys507IlefsTer8
NM_001354692.2:c.1477_1517dup (RAF1)	NP_001341621.1:p.Cys507IlefsTer8
NM_001354693.2:c.1621_1661dup (RAF1)	NP_001341622.1:p.Cys555IlefsTer8
NM_001354694.2:c.1537_1577dup (RAF1)	NP_001341623.1:p.Cys527IlefsTer8
NM_001354695.2:c.1378_1418dup (RAF1)	NP_001341624.1:p.Cys474IlefsTer8
NR_148940.2:n.2164_2204dup (RAF1)
NR_148941.2:n.2110_2150dup (RAF1)
NR_148942.2:n.2049_2089dup (RAF1)
NM_001354690.3:c.1720_1760dup (RAF1)	NP_001341619.1:p.Cys588IlefsTer8
NM_001354691.3:c.1477_1517dup (RAF1)	NP_001341620.1:p.Cys507IlefsTer8
NM_001354692.3:c.1477_1517dup (RAF1)	NP_001341621.1:p.Cys507IlefsTer8
NM_001354693.3:c.1621_1661dup (RAF1)	NP_001341622.1:p.Cys555IlefsTer8
NM_001354694.3:c.1537_1577dup (RAF1)	NP_001341623.1:p.Cys527IlefsTer8
NM_001354695.3:c.1378_1418dup (RAF1)	NP_001341624.1:p.Cys474IlefsTer8
NM_002880.4:c.1720_1760dup (RAF1) MANE Select	NP_002871.1:p.Cys588IlefsTer8
NR_148940.3:n.2164_2204dup (RAF1)
NR_148941.3:n.2110_2150dup (RAF1)
NR_148942.3:n.2049_2089dup (RAF1)