Canonical Allele Identifier: CA2664506897

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584915-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584919dup , CM000665.2:g.12584919dup	GRCh38
NC_000003.11:g.12626418dup , CM000665.1:g.12626418dup	GRCh37
NC_000003.10:g.12601418dup	NCBI36
NG_007467.1:g.84264dup , LRG_413:g.84264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1399dup (RAF1)	ENSP00000401088.1:n.*1399dup
ENST00000432427.3:c.1051dup (RAF1)
ENST00000460610.2:n.6046dup (RAF1)
ENST00000471449.2:n.544dup (RAF1)
ENST00000475353.2:n.4014dup (RAF1)
ENST00000684903.1:c.*1411dup (RAF1)	ENSP00000508612.1:n.*1411dup
ENST00000685348.1:c.*1445dup (RAF1)	ENSP00000510285.1:n.*1445dup
ENST00000685437.1:c.1635dup (RAF1)	ENSP00000508794.1:p.Lys546GlnfsTer9
ENST00000685653.1:c.1734dup (RAF1)	ENSP00000509968.1:p.Lys579GlnfsTer9
ENST00000685697.1:n.2469dup (RAF1)
ENST00000685738.1:c.*698dup (RAF1)	ENSP00000510156.1:n.*698dup
ENST00000686409.1:n.5143dup (RAF1)
ENST00000686455.1:n.4455dup (RAF1)
ENST00000686762.1:c.*293dup (RAF1)	ENSP00000509767.1:n.*293dup
ENST00000687257.1:n.4188dup (RAF1)
ENST00000687326.1:c.*3026dup (RAF1)	ENSP00000509665.1:n.*3026dup
ENST00000687505.1:n.1852dup (RAF1)
ENST00000687923.1:c.1623dup (RAF1)	ENSP00000510255.1:p.Lys542GlnfsTer9
ENST00000688269.1:n.2330dup (RAF1)
ENST00000688444.1:n.3851dup (RAF1)
ENST00000688543.1:c.1635dup (RAF1)	ENSP00000509612.1:p.Lys546GlnfsTer9
ENST00000688625.1:c.*3103dup (RAF1)	ENSP00000509522.1:n.*3103dup
ENST00000688803.1:n.3162dup (RAF1)
ENST00000688914.1:n.1147dup (RAF1)
ENST00000689097.1:c.*1411dup (RAF1)	ENSP00000509756.1:n.*1411dup
ENST00000689389.1:c.1557dup (RAF1)	ENSP00000510213.1:p.Lys520GlnfsTer9
ENST00000689418.1:c.*3629dup (RAF1)	ENSP00000509467.1:n.*3629dup
ENST00000689540.1:n.4102dup (RAF1)
ENST00000689876.1:c.*283dup (RAF1)	ENSP00000508535.1:n.*283dup
ENST00000689914.1:c.*668dup (RAF1)	ENSP00000509847.1:n.*668dup
ENST00000690397.1:c.1623dup (RAF1)	ENSP00000508730.1:p.Lys542GlnfsTer9
ENST00000690460.1:c.1722dup (RAF1)	ENSP00000509106.1:p.Lys575GlnfsTer9
ENST00000690585.1:c.460dup (RAF1)
ENST00000690625.1:n.2770dup (RAF1)
ENST00000691396.1:c.*1606dup (RAF1)	ENSP00000510712.1:n.*1606dup
ENST00000691643.1:n.2787dup (RAF1)
ENST00000691724.1:c.*691dup (RAF1)	ENSP00000509255.1:n.*691dup
ENST00000691779.1:c.*1312dup (RAF1)	ENSP00000508592.1:n.*1312dup
ENST00000691888.1:c.608dup (RAF1)
ENST00000691899.1:c.1734dup (RAF1)	ENSP00000508763.1:p.Lys579GlnfsTer9
ENST00000692069.1:n.4658dup (RAF1)
ENST00000692093.1:c.1635dup (RAF1)	ENSP00000509669.1:p.Lys546GlnfsTer9
ENST00000692311.1:n.2558dup (RAF1)
ENST00000692558.1:n.4317dup (RAF1)
ENST00000692773.1:c.*1471dup (RAF1)	ENSP00000509055.1:n.*1471dup
ENST00000692830.1:c.*1479dup (RAF1)	ENSP00000509461.1:n.*1479dup
ENST00000693312.1:c.1509dup (RAF1)	ENSP00000508686.1:p.Lys504GlnfsTer9
ENST00000693664.1:c.*185dup (RAF1)	ENSP00000509614.1:n.*185dup
ENST00000693705.1:c.*1113dup (RAF1)	ENSP00000510697.1:n.*1113dup
ENST00000251849.9:c.1734dup (RAF1) MANE Select	ENSP00000251849.4:p.Lys579GlnfsTer9
ENST00000442415.7:c.1794dup (RAF1)	ENSP00000401888.2:p.Lys599GlnfsTer9
ENST00000676541.1:c.*2666dup (MKRN2)	ENSP00000503730.1:n.*2666dup
ENST00000677142.1:c.*2666dup (MKRN2)	ENSP00000504455.1:n.*2666dup
ENST00000677816.1:c.*1221dup (MKRN2)	ENSP00000502893.1:n.*1221dup
ENST00000677941.1:n.2729dup (MKRN2)
ENST00000251849.8:c.1734dup (RAF1)	ENSP00000251849.4:p.Lys579GlnfsTer9
ENST00000423275.5:c.*1411dup (RAF1)	ENSP00000401088.1:n.*1411dup
ENST00000432427.2:c.1371dup (RAF1)	ENSP00000398591.2:p.Lys458GlnfsTer9
ENST00000442415.6:c.1794dup (RAF1)	ENSP00000401888.2:p.Lys599GlnfsTer9
ENST00000471449.1:n.423dup (RAF1)
NM_002880.3:c.1734dup , LRG_413t1:c.1734dup (RAF1)	NP_002871.1:p.Lys579GlnfsTer9
XM_005265355.1:c.1734dup (RAF1)	XP_005265412.1:p.Lys579GlnfsTer9
XM_005265357.1:c.1635dup (RAF1)	XP_005265414.1:p.Lys546GlnfsTer9
XM_005265358.3:c.1491dup (RAF1)	XP_005265415.1:p.Lys498GlnfsTer9
XM_005265359.3:c.1392dup (RAF1)	XP_005265416.1:p.Lys465GlnfsTer9
XM_011533974.1:c.1734dup (RAF1)	XP_011532276.1:p.Lys579GlnfsTer9
XM_011533975.1:c.1491dup (RAF1)	XP_011532277.1:p.Lys498GlnfsTer9
NM_001354689.1:c.1794dup (RAF1)	NP_001341618.1:p.Lys599GlnfsTer9
NM_001354690.1:c.1734dup (RAF1)	NP_001341619.1:p.Lys579GlnfsTer9
NM_001354691.1:c.1491dup (RAF1)	NP_001341620.1:p.Lys498GlnfsTer9
NM_001354692.1:c.1491dup (RAF1)	NP_001341621.1:p.Lys498GlnfsTer9
NM_001354693.1:c.1635dup (RAF1)	NP_001341622.1:p.Lys546GlnfsTer9
NM_001354694.1:c.1551dup (RAF1)	NP_001341623.1:p.Lys518GlnfsTer9
NM_001354695.1:c.1392dup (RAF1)	NP_001341624.1:p.Lys465GlnfsTer9
NR_148940.1:n.2262dup (RAF1)
NR_148941.1:n.2208dup (RAF1)
NR_148942.1:n.2147dup (RAF1)
XM_011533974.3:c.1734dup (RAF1)	XP_011532276.1:p.Lys579GlnfsTer9
XM_017006966.1:c.1635dup (RAF1)	XP_016862455.1:p.Lys546GlnfsTer9
NM_001354689.3:c.1794dup (RAF1)	NP_001341618.1:p.Lys599GlnfsTer9
NM_001354690.2:c.1734dup (RAF1)	NP_001341619.1:p.Lys579GlnfsTer9
NM_001354691.2:c.1491dup (RAF1)	NP_001341620.1:p.Lys498GlnfsTer9
NM_001354692.2:c.1491dup (RAF1)	NP_001341621.1:p.Lys498GlnfsTer9
NM_001354693.2:c.1635dup (RAF1)	NP_001341622.1:p.Lys546GlnfsTer9
NM_001354694.2:c.1551dup (RAF1)	NP_001341623.1:p.Lys518GlnfsTer9
NM_001354695.2:c.1392dup (RAF1)	NP_001341624.1:p.Lys465GlnfsTer9
NR_148940.2:n.2178dup (RAF1)
NR_148941.2:n.2124dup (RAF1)
NR_148942.2:n.2063dup (RAF1)
NM_001354690.3:c.1734dup (RAF1)	NP_001341619.1:p.Lys579GlnfsTer9
NM_001354691.3:c.1491dup (RAF1)	NP_001341620.1:p.Lys498GlnfsTer9
NM_001354692.3:c.1491dup (RAF1)	NP_001341621.1:p.Lys498GlnfsTer9
NM_001354693.3:c.1635dup (RAF1)	NP_001341622.1:p.Lys546GlnfsTer9
NM_001354694.3:c.1551dup (RAF1)	NP_001341623.1:p.Lys518GlnfsTer9
NM_001354695.3:c.1392dup (RAF1)	NP_001341624.1:p.Lys465GlnfsTer9
NM_002880.4:c.1734dup (RAF1) MANE Select	NP_002871.1:p.Lys579GlnfsTer9
NR_148940.3:n.2178dup (RAF1)
NR_148941.3:n.2124dup (RAF1)
NR_148942.3:n.2063dup (RAF1)