Canonical Allele Identifier: CA1045171361

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2058275262
• gnomAD v3: 3-12584882-TCA-T
• gnomAD v4: 3-12584882-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584887_12584888del , CM000665.2:g.12584887_12584888del	GRCh38
NC_000003.11:g.12626386_12626387del , CM000665.1:g.12626386_12626387del	GRCh37
NC_000003.10:g.12601386_12601387del	NCBI36
NG_007467.1:g.84296_84297del , LRG_413:g.84296_84297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1431_*1432del (RAF1)	ENSP00000401088.1:n.*1431_*1432del
ENST00000432427.3:c.1083_1084del (RAF1)
ENST00000460610.2:n.6078_6079del (RAF1)
ENST00000471449.2:n.576_577del (RAF1)
ENST00000475353.2:n.4046_4047del (RAF1)
ENST00000684903.1:c.*1443_*1444del (RAF1)	ENSP00000508612.1:n.*1443_*1444del
ENST00000685348.1:c.*1477_*1478del (RAF1)	ENSP00000510285.1:n.*1477_*1478del
ENST00000685437.1:c.1667_1668del (RAF1)	ENSP00000508794.1:p.Val556GlufsTer18
ENST00000685653.1:c.1766_1767del (RAF1)	ENSP00000509968.1:p.Val589GlufsTer18
ENST00000685697.1:n.2501_2502del (RAF1)
ENST00000685738.1:c.*730_*731del (RAF1)	ENSP00000510156.1:n.*730_*731del
ENST00000686409.1:n.5175_5176del (RAF1)
ENST00000686455.1:n.4487_4488del (RAF1)
ENST00000686762.1:c.*325_*326del (RAF1)	ENSP00000509767.1:n.*325_*326del
ENST00000687257.1:n.4220_4221del (RAF1)
ENST00000687326.1:c.*3058_*3059del (RAF1)	ENSP00000509665.1:n.*3058_*3059del
ENST00000687505.1:n.1884_1885del (RAF1)
ENST00000687923.1:c.1655_1656del (RAF1)	ENSP00000510255.1:p.Val552GlufsTer18
ENST00000688269.1:n.2362_2363del (RAF1)
ENST00000688444.1:n.3883_3884del (RAF1)
ENST00000688543.1:c.1667_1668del (RAF1)	ENSP00000509612.1:p.Val556GlufsTer18
ENST00000688625.1:c.*3135_*3136del (RAF1)	ENSP00000509522.1:n.*3135_*3136del
ENST00000688803.1:n.3194_3195del (RAF1)
ENST00000689097.1:c.*1443_*1444del (RAF1)	ENSP00000509756.1:n.*1443_*1444del
ENST00000689389.1:c.1589_1590del (RAF1)	ENSP00000510213.1:p.Val530GlufsTer18
ENST00000689418.1:c.*3661_*3662del (RAF1)	ENSP00000509467.1:n.*3661_*3662del
ENST00000689540.1:n.4134_4135del (RAF1)
ENST00000689876.1:c.*315_*316del (RAF1)	ENSP00000508535.1:n.*315_*316del
ENST00000689914.1:c.*700_*701del (RAF1)	ENSP00000509847.1:n.*700_*701del
ENST00000690397.1:c.1655_1656del (RAF1)	ENSP00000508730.1:p.Val552GlufsTer18
ENST00000690460.1:c.1754_1755del (RAF1)	ENSP00000509106.1:p.Val585GlufsTer18
ENST00000690585.1:c.492_493del (RAF1)
ENST00000690625.1:n.2802_2803del (RAF1)
ENST00000691396.1:c.*1638_*1639del (RAF1)	ENSP00000510712.1:n.*1638_*1639del
ENST00000691643.1:n.2819_2820del (RAF1)
ENST00000691724.1:c.*723_*724del (RAF1)	ENSP00000509255.1:n.*723_*724del
ENST00000691779.1:c.*1344_*1345del (RAF1)	ENSP00000508592.1:n.*1344_*1345del
ENST00000691888.1:c.640_641del (RAF1)
ENST00000691899.1:c.1766_1767del (RAF1)	ENSP00000508763.1:p.Val589GlufsTer18
ENST00000692069.1:n.4690_4691del (RAF1)
ENST00000692093.1:c.1667_1668del (RAF1)	ENSP00000509669.1:p.Val556GlufsTer18
ENST00000692311.1:n.2590_2591del (RAF1)
ENST00000692558.1:n.4349_4350del (RAF1)
ENST00000692773.1:c.*1503_*1504del (RAF1)	ENSP00000509055.1:n.*1503_*1504del
ENST00000692830.1:c.*1511_*1512del (RAF1)	ENSP00000509461.1:n.*1511_*1512del
ENST00000693312.1:c.1541_1542del (RAF1)	ENSP00000508686.1:p.Val514GlufsTer18
ENST00000693664.1:c.*217_*218del (RAF1)	ENSP00000509614.1:n.*217_*218del
ENST00000693705.1:c.*1145_*1146del (RAF1)	ENSP00000510697.1:n.*1145_*1146del
ENST00000251849.9:c.1766_1767del (RAF1) MANE Select	ENSP00000251849.4:p.Val589GlufsTer18
ENST00000442415.7:c.1826_1827del (RAF1)	ENSP00000401888.2:p.Val609GlufsTer18
ENST00000676541.1:c.*2634_*2635del (MKRN2)	ENSP00000503730.1:n.*2634_*2635del
ENST00000677142.1:c.*2634_*2635del (MKRN2)	ENSP00000504455.1:n.*2634_*2635del
ENST00000677816.1:c.*1189_*1190del (MKRN2)	ENSP00000502893.1:n.*1189_*1190del
ENST00000677941.1:n.2697_2698del (MKRN2)
ENST00000251849.8:c.1766_1767del (RAF1)	ENSP00000251849.4:p.Val589GlufsTer18
ENST00000423275.5:c.*1443_*1444del (RAF1)	ENSP00000401088.1:n.*1443_*1444del
ENST00000432427.2:c.1403_1404del (RAF1)	ENSP00000398591.2:p.Val468GlufsTer18
ENST00000442415.6:c.1826_1827del (RAF1)	ENSP00000401888.2:p.Val609GlufsTer18
ENST00000471449.1:n.455_456del (RAF1)
NM_002880.3:c.1766_1767del , LRG_413t1:c.1766_1767del (RAF1)	NP_002871.1:p.Val589GlufsTer18
XM_005265355.1:c.1766_1767del (RAF1)	XP_005265412.1:p.Val589GlufsTer18
XM_005265357.1:c.1667_1668del (RAF1)	XP_005265414.1:p.Val556GlufsTer18
XM_005265358.3:c.1523_1524del (RAF1)	XP_005265415.1:p.Val508GlufsTer18
XM_005265359.3:c.1424_1425del (RAF1)	XP_005265416.1:p.Val475GlufsTer18
XM_011533974.1:c.1766_1767del (RAF1)	XP_011532276.1:p.Val589GlufsTer18
XM_011533975.1:c.1523_1524del (RAF1)	XP_011532277.1:p.Val508GlufsTer18
NM_001354689.1:c.1826_1827del (RAF1)	NP_001341618.1:p.Val609GlufsTer18
NM_001354690.1:c.1766_1767del (RAF1)	NP_001341619.1:p.Val589GlufsTer18
NM_001354691.1:c.1523_1524del (RAF1)	NP_001341620.1:p.Val508GlufsTer18
NM_001354692.1:c.1523_1524del (RAF1)	NP_001341621.1:p.Val508GlufsTer18
NM_001354693.1:c.1667_1668del (RAF1)	NP_001341622.1:p.Val556GlufsTer18
NM_001354694.1:c.1583_1584del (RAF1)	NP_001341623.1:p.Val528GlufsTer18
NM_001354695.1:c.1424_1425del (RAF1)	NP_001341624.1:p.Val475GlufsTer18
NR_148940.1:n.2294_2295del (RAF1)
NR_148941.1:n.2240_2241del (RAF1)
NR_148942.1:n.2179_2180del (RAF1)
XM_011533974.3:c.1766_1767del (RAF1)	XP_011532276.1:p.Val589GlufsTer18
XM_017006966.1:c.1667_1668del (RAF1)	XP_016862455.1:p.Val556GlufsTer18
NM_001354689.3:c.1826_1827del (RAF1)	NP_001341618.1:p.Val609GlufsTer18
NM_001354690.2:c.1766_1767del (RAF1)	NP_001341619.1:p.Val589GlufsTer18
NM_001354691.2:c.1523_1524del (RAF1)	NP_001341620.1:p.Val508GlufsTer18
NM_001354692.2:c.1523_1524del (RAF1)	NP_001341621.1:p.Val508GlufsTer18
NM_001354693.2:c.1667_1668del (RAF1)	NP_001341622.1:p.Val556GlufsTer18
NM_001354694.2:c.1583_1584del (RAF1)	NP_001341623.1:p.Val528GlufsTer18
NM_001354695.2:c.1424_1425del (RAF1)	NP_001341624.1:p.Val475GlufsTer18
NR_148940.2:n.2210_2211del (RAF1)
NR_148941.2:n.2156_2157del (RAF1)
NR_148942.2:n.2095_2096del (RAF1)
NM_001354690.3:c.1766_1767del (RAF1)	NP_001341619.1:p.Val589GlufsTer18
NM_001354691.3:c.1523_1524del (RAF1)	NP_001341620.1:p.Val508GlufsTer18
NM_001354692.3:c.1523_1524del (RAF1)	NP_001341621.1:p.Val508GlufsTer18
NM_001354693.3:c.1667_1668del (RAF1)	NP_001341622.1:p.Val556GlufsTer18
NM_001354694.3:c.1583_1584del (RAF1)	NP_001341623.1:p.Val528GlufsTer18
NM_001354695.3:c.1424_1425del (RAF1)	NP_001341624.1:p.Val475GlufsTer18
NM_002880.4:c.1766_1767del (RAF1) MANE Select	NP_002871.1:p.Val589GlufsTer18
NR_148940.3:n.2210_2211del (RAF1)
NR_148941.3:n.2156_2157del (RAF1)
NR_148942.3:n.2095_2096del (RAF1)