Canonical Allele Identifier: CA2664506823

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584614-A-AGCTGCCCCTGACAGCAGCGTGCCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584614_12584615insGCTGCCCCTGACAGCAGCGTGCCCTT , CM000665.2:g.12584614_12584615insGCTGCCCCTGACAGCAGCGTGCCCTT	GRCh38
NC_000003.11:g.12626113_12626114insGCTGCCCCTGACAGCAGCGTGCCCTT , CM000665.1:g.12626113_12626114insGCTGCCCCTGACAGCAGCGTGCCCTT	GRCh37
NC_000003.10:g.12601113_12601114insGCTGCCCCTGACAGCAGCGTGCCCTT	NCBI36
NG_007467.1:g.84565_84566insAAGGGCACGCTGCTGTCAGGGGCAGC , LRG_413:g.84565_84566insAAGGGCACGCTGCTGTCAGGGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1511_*1512insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000401088.1:n.*1511_*1512insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000432427.3:c.1163_1164insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000460610.2:n.6158_6159insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000471449.2:n.656_657insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000475353.2:n.4126_4127insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000684903.1:c.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508612.1:n.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000685348.1:c.*1557_*1558insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510285.1:n.*1557_*1558insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000685437.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508794.1:p.Ile583LysfsTer33
ENST00000685653.1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509968.1:p.Ile616LysfsTer33
ENST00000685697.1:n.2581_2582insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000685738.1:c.*810_*811insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510156.1:n.*810_*811insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000686409.1:n.5255_5256insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000686455.1:n.4567_4568insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000686762.1:c.*405_*406insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509767.1:n.*405_*406insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000687257.1:n.4300_4301insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000687326.1:c.*3138_*3139insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509665.1:n.*3138_*3139insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000687505.1:n.1964_1965insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000687923.1:c.1735_1736insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510255.1:p.Ile579LysfsTer33
ENST00000688269.1:n.2442_2443insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000688444.1:n.3963_3964insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000688543.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509612.1:p.Ile583LysfsTer33
ENST00000688625.1:c.*3215_*3216insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509522.1:n.*3215_*3216insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000688803.1:n.3274_3275insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000689097.1:c.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509756.1:n.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000689389.1:c.1669_1670insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510213.1:p.Ile557LysfsTer33
ENST00000689418.1:c.*3741_*3742insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509467.1:n.*3741_*3742insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000689540.1:n.4214_4215insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000689876.1:c.*395_*396insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508535.1:n.*395_*396insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000689914.1:c.*780_*781insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509847.1:n.*780_*781insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000690397.1:c.1735_1736insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508730.1:p.Ile579LysfsTer33
ENST00000690460.1:c.1834_1835insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509106.1:p.Ile612LysfsTer33
ENST00000690585.1:c.572_573insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000690625.1:n.2882_2883insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000691396.1:c.*1718_*1719insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510712.1:n.*1718_*1719insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000691643.1:n.2899_2900insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000691724.1:c.*803_*804insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509255.1:n.*803_*804insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000691779.1:c.*1424_*1425insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508592.1:n.*1424_*1425insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000691888.1:c.720_721insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000691899.1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508763.1:p.Ile616LysfsTer33
ENST00000692069.1:n.4770_4771insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000692093.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509669.1:p.Ile583LysfsTer33
ENST00000692311.1:n.2670_2671insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000692558.1:n.4429_4430insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
ENST00000692773.1:c.*1583_*1584insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509055.1:n.*1583_*1584insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000692830.1:c.*1591_*1592insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509461.1:n.*1591_*1592insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000693312.1:c.1621_1622insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000508686.1:p.Ile541LysfsTer33
ENST00000693664.1:c.*297_*298insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000509614.1:n.*297_*298insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000693705.1:c.*1225_*1226insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000510697.1:n.*1225_*1226insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000251849.9:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1) MANE Select	ENSP00000251849.4:p.Ile616LysfsTer33
ENST00000442415.7:c.1906_1907insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000401888.2:p.Ile636LysfsTer33
ENST00000676541.1:c.*2361_*2362insGCTGCCCCTGACAGCAGCGTGCCCTT (MKRN2)	ENSP00000503730.1:n.*2361_*2362insGCTGCCCCTGACAGCAGCGTGCCCTT
ENST00000677142.1:c.*2361_*2362insGCTGCCCCTGACAGCAGCGTGCCCTT (MKRN2)	ENSP00000504455.1:n.*2361_*2362insGCTGCCCCTGACAGCAGCGTGCCCTT
ENST00000677816.1:c.*916_*917insGCTGCCCCTGACAGCAGCGTGCCCTT (MKRN2)	ENSP00000502893.1:n.*916_*917insGCTGCCCCTGACAGCAGCGTGCCCTT
ENST00000677941.1:n.2424_2425insGCTGCCCCTGACAGCAGCGTGCCCTT (MKRN2)
ENST00000251849.8:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000251849.4:p.Ile616LysfsTer33
ENST00000423275.5:c.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000401088.1:n.*1523_*1524insAAGGGCACGCTGCTGTCAGGGGCAGC
ENST00000432427.2:c.1483_1484insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000398591.2:p.Ile495LysfsTer33
ENST00000442415.6:c.1906_1907insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	ENSP00000401888.2:p.Ile636LysfsTer33
ENST00000471449.1:n.535_536insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NM_002880.3:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC , LRG_413t1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_002871.1:p.Ile616LysfsTer33
XM_005265355.1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_005265412.1:p.Ile616LysfsTer33
XM_005265357.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_005265414.1:p.Ile583LysfsTer33
XM_005265358.3:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_005265415.1:p.Ile535LysfsTer33
XM_005265359.3:c.1504_1505insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_005265416.1:p.Ile502LysfsTer33
XM_011533974.1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_011532276.1:p.Ile616LysfsTer33
XM_011533975.1:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_011532277.1:p.Ile535LysfsTer33
NM_001354689.1:c.1906_1907insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341618.1:p.Ile636LysfsTer33
NM_001354690.1:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341619.1:p.Ile616LysfsTer33
NM_001354691.1:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341620.1:p.Ile535LysfsTer33
NM_001354692.1:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341621.1:p.Ile535LysfsTer33
NM_001354693.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341622.1:p.Ile583LysfsTer33
NM_001354694.1:c.1663_1664insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341623.1:p.Ile555LysfsTer33
NM_001354695.1:c.1504_1505insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341624.1:p.Ile502LysfsTer33
NR_148940.1:n.2374_2375insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148941.1:n.2320_2321insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148942.1:n.2259_2260insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
XM_011533974.3:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_011532276.1:p.Ile616LysfsTer33
XM_017006966.1:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	XP_016862455.1:p.Ile583LysfsTer33
NM_001354689.3:c.1906_1907insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341618.1:p.Ile636LysfsTer33
NM_001354690.2:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341619.1:p.Ile616LysfsTer33
NM_001354691.2:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341620.1:p.Ile535LysfsTer33
NM_001354692.2:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341621.1:p.Ile535LysfsTer33
NM_001354693.2:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341622.1:p.Ile583LysfsTer33
NM_001354694.2:c.1663_1664insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341623.1:p.Ile555LysfsTer33
NM_001354695.2:c.1504_1505insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341624.1:p.Ile502LysfsTer33
NR_148940.2:n.2290_2291insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148941.2:n.2236_2237insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148942.2:n.2175_2176insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NM_001354690.3:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341619.1:p.Ile616LysfsTer33
NM_001354691.3:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341620.1:p.Ile535LysfsTer33
NM_001354692.3:c.1603_1604insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341621.1:p.Ile535LysfsTer33
NM_001354693.3:c.1747_1748insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341622.1:p.Ile583LysfsTer33
NM_001354694.3:c.1663_1664insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341623.1:p.Ile555LysfsTer33
NM_001354695.3:c.1504_1505insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)	NP_001341624.1:p.Ile502LysfsTer33
NM_002880.4:c.1846_1847insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1) MANE Select	NP_002871.1:p.Ile616LysfsTer33
NR_148940.3:n.2290_2291insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148941.3:n.2236_2237insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)
NR_148942.3:n.2175_2176insAAGGGCACGCTGCTGTCAGGGGCAGC (RAF1)