Canonical Allele Identifier: CA1045171235

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 928992
• ClinVar RCV Id: RCV001193741
• dbSNP Id: rs2058255431
• gnomAD v3: 3-12584542-GTCAGCGTGCAAGCATTGATATCCT-G
• gnomAD v4: 3-12584542-GTCAGCGTGCAAGCATTGATATCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584543_12584566del , CM000665.2:g.12584543_12584566del	GRCh38
NC_000003.11:g.12626042_12626065del , CM000665.1:g.12626042_12626065del	GRCh37
NC_000003.10:g.12601042_12601065del	NCBI36
NG_007467.1:g.84614_84637del , LRG_413:g.84614_84637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1560_*1583del (RAF1)	ENSP00000401088.1:n.*1560_*1583del
ENST00000432427.3:c.1212_1235del (RAF1)
ENST00000460610.2:n.6207_6230del (RAF1)
ENST00000471449.2:n.705_728del (RAF1)
ENST00000475353.2:n.4175_4198del (RAF1)
ENST00000684903.1:c.*1572_*1595del (RAF1)	ENSP00000508612.1:n.*1572_*1595del
ENST00000685348.1:c.*1606_*1629del (RAF1)	ENSP00000510285.1:n.*1606_*1629del
ENST00000685437.1:c.1796_1819del (RAF1)	ENSP00000508794.1:p.Glu599_Thr607delinsAla
ENST00000685653.1:c.1895_1918del (RAF1)	ENSP00000509968.1:p.Glu632_Thr640delinsAla
ENST00000685697.1:n.2630_2653del (RAF1)
ENST00000685738.1:c.*859_*882del (RAF1)	ENSP00000510156.1:n.*859_*882del
ENST00000686409.1:n.5304_5327del (RAF1)
ENST00000686455.1:n.4616_4639del (RAF1)
ENST00000686762.1:c.*454_*477del (RAF1)	ENSP00000509767.1:n.*454_*477del
ENST00000687257.1:n.4349_4372del (RAF1)
ENST00000687326.1:c.*3187_*3210del (RAF1)	ENSP00000509665.1:n.*3187_*3210del
ENST00000687505.1:n.2013_2036del (RAF1)
ENST00000687923.1:c.1784_1807del (RAF1)	ENSP00000510255.1:p.Glu595_Thr603delinsAla
ENST00000688269.1:n.2491_2514del (RAF1)
ENST00000688444.1:n.4012_4035del (RAF1)
ENST00000688543.1:c.1796_1819del (RAF1)	ENSP00000509612.1:p.Glu599_Thr607delinsAla
ENST00000688625.1:c.*3264_*3287del (RAF1)	ENSP00000509522.1:n.*3264_*3287del
ENST00000688803.1:n.3323_3346del (RAF1)
ENST00000689097.1:c.*1572_*1595del (RAF1)	ENSP00000509756.1:n.*1572_*1595del
ENST00000689389.1:c.1718_1741del (RAF1)	ENSP00000510213.1:p.Glu573_Thr581delinsAla
ENST00000689418.1:c.*3790_*3813del (RAF1)	ENSP00000509467.1:n.*3790_*3813del
ENST00000689540.1:n.4263_4286del (RAF1)
ENST00000689876.1:c.*444_*467del (RAF1)	ENSP00000508535.1:n.*444_*467del
ENST00000689914.1:c.*829_*852del (RAF1)	ENSP00000509847.1:n.*829_*852del
ENST00000690397.1:c.1784_1807del (RAF1)	ENSP00000508730.1:p.Glu595_Thr603delinsAla
ENST00000690460.1:c.1883_1906del (RAF1)	ENSP00000509106.1:p.Glu628_Thr636delinsAla
ENST00000690585.1:c.621_644del (RAF1)
ENST00000690625.1:n.2931_2954del (RAF1)
ENST00000691396.1:c.*1767_*1790del (RAF1)	ENSP00000510712.1:n.*1767_*1790del
ENST00000691643.1:n.2948_2971del (RAF1)
ENST00000691724.1:c.*852_*875del (RAF1)	ENSP00000509255.1:n.*852_*875del
ENST00000691779.1:c.*1473_*1496del (RAF1)	ENSP00000508592.1:n.*1473_*1496del
ENST00000691888.1:c.769_792del (RAF1)
ENST00000691899.1:c.1895_1918del (RAF1)	ENSP00000508763.1:p.Glu632_Thr640delinsAla
ENST00000692069.1:n.4819_4842del (RAF1)
ENST00000692093.1:c.1796_1819del (RAF1)	ENSP00000509669.1:p.Glu599_Thr607delinsAla
ENST00000692311.1:n.2719_2742del (RAF1)
ENST00000692558.1:n.4478_4501del (RAF1)
ENST00000692773.1:c.*1632_*1655del (RAF1)	ENSP00000509055.1:n.*1632_*1655del
ENST00000692830.1:c.*1640_*1663del (RAF1)	ENSP00000509461.1:n.*1640_*1663del
ENST00000693312.1:c.1670_1693del (RAF1)	ENSP00000508686.1:p.Glu557_Thr565delinsAla
ENST00000693664.1:c.*346_*369del (RAF1)	ENSP00000509614.1:n.*346_*369del
ENST00000693705.1:c.*1274_*1297del (RAF1)	ENSP00000510697.1:n.*1274_*1297del
ENST00000251849.9:c.1895_1918del (RAF1) MANE Select	ENSP00000251849.4:p.Glu632_Thr640delinsAla
ENST00000442415.7:c.1955_1978del (RAF1)	ENSP00000401888.2:p.Glu652_Thr660delinsAla
ENST00000676541.1:c.*2290_*2313del (MKRN2)	ENSP00000503730.1:n.*2290_*2313del
ENST00000677142.1:c.*2290_*2313del (MKRN2)	ENSP00000504455.1:n.*2290_*2313del
ENST00000677816.1:c.*845_*868del (MKRN2)	ENSP00000502893.1:n.*845_*868del
ENST00000677941.1:n.2353_2376del (MKRN2)
ENST00000251849.8:c.1895_1918del (RAF1)	ENSP00000251849.4:p.Glu632_Thr640delinsAla
ENST00000423275.5:c.*1572_*1595del (RAF1)	ENSP00000401088.1:n.*1572_*1595del
ENST00000432427.2:c.1532_1555del (RAF1)	ENSP00000398591.2:p.Glu511_Thr519delinsAla
ENST00000442415.6:c.1955_1978del (RAF1)	ENSP00000401888.2:p.Glu652_Thr660delinsAla
ENST00000471449.1:n.584_607del (RAF1)
NM_002880.3:c.1895_1918del , LRG_413t1:c.1895_1918del (RAF1)	NP_002871.1:p.Glu632_Thr640delinsAla
XM_005265355.1:c.1895_1918del (RAF1)	XP_005265412.1:p.Glu632_Thr640delinsAla
XM_005265357.1:c.1796_1819del (RAF1)	XP_005265414.1:p.Glu599_Thr607delinsAla
XM_005265358.3:c.1652_1675del (RAF1)	XP_005265415.1:p.Glu551_Thr559delinsAla
XM_005265359.3:c.1553_1576del (RAF1)	XP_005265416.1:p.Glu518_Thr526delinsAla
XM_011533974.1:c.1895_1918del (RAF1)	XP_011532276.1:p.Glu632_Thr640delinsAla
XM_011533975.1:c.1652_1675del (RAF1)	XP_011532277.1:p.Glu551_Thr559delinsAla
NM_001354689.1:c.1955_1978del (RAF1)	NP_001341618.1:p.Glu652_Thr660delinsAla
NM_001354690.1:c.1895_1918del (RAF1)	NP_001341619.1:p.Glu632_Thr640delinsAla
NM_001354691.1:c.1652_1675del (RAF1)	NP_001341620.1:p.Glu551_Thr559delinsAla
NM_001354692.1:c.1652_1675del (RAF1)	NP_001341621.1:p.Glu551_Thr559delinsAla
NM_001354693.1:c.1796_1819del (RAF1)	NP_001341622.1:p.Glu599_Thr607delinsAla
NM_001354694.1:c.1712_1735del (RAF1)	NP_001341623.1:p.Glu571_Thr579delinsAla
NM_001354695.1:c.1553_1576del (RAF1)	NP_001341624.1:p.Glu518_Thr526delinsAla
NR_148940.1:n.2423_2446del (RAF1)
NR_148941.1:n.2369_2392del (RAF1)
NR_148942.1:n.2308_2331del (RAF1)
XM_011533974.3:c.1895_1918del (RAF1)	XP_011532276.1:p.Glu632_Thr640delinsAla
XM_017006966.1:c.1796_1819del (RAF1)	XP_016862455.1:p.Glu599_Thr607delinsAla
NM_001354689.3:c.1955_1978del (RAF1)	NP_001341618.1:p.Glu652_Thr660delinsAla
NM_001354690.2:c.1895_1918del (RAF1)	NP_001341619.1:p.Glu632_Thr640delinsAla
NM_001354691.2:c.1652_1675del (RAF1)	NP_001341620.1:p.Glu551_Thr559delinsAla
NM_001354692.2:c.1652_1675del (RAF1)	NP_001341621.1:p.Glu551_Thr559delinsAla
NM_001354693.2:c.1796_1819del (RAF1)	NP_001341622.1:p.Glu599_Thr607delinsAla
NM_001354694.2:c.1712_1735del (RAF1)	NP_001341623.1:p.Glu571_Thr579delinsAla
NM_001354695.2:c.1553_1576del (RAF1)	NP_001341624.1:p.Glu518_Thr526delinsAla
NR_148940.2:n.2339_2362del (RAF1)
NR_148941.2:n.2285_2308del (RAF1)
NR_148942.2:n.2224_2247del (RAF1)
NM_001354690.3:c.1895_1918del (RAF1)	NP_001341619.1:p.Glu632_Thr640delinsAla
NM_001354691.3:c.1652_1675del (RAF1)	NP_001341620.1:p.Glu551_Thr559delinsAla
NM_001354692.3:c.1652_1675del (RAF1)	NP_001341621.1:p.Glu551_Thr559delinsAla
NM_001354693.3:c.1796_1819del (RAF1)	NP_001341622.1:p.Glu599_Thr607delinsAla
NM_001354694.3:c.1712_1735del (RAF1)	NP_001341623.1:p.Glu571_Thr579delinsAla
NM_001354695.3:c.1553_1576del (RAF1)	NP_001341624.1:p.Glu518_Thr526delinsAla
NM_002880.4:c.1895_1918del (RAF1) MANE Select	NP_002871.1:p.Glu632_Thr640delinsAla
NR_148940.3:n.2339_2362del (RAF1)
NR_148941.3:n.2285_2308del (RAF1)
NR_148942.3:n.2224_2247del (RAF1)