Canonical Allele Identifier: CA432522010

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1501883
• ClinVar RCV Id: RCV002019971
• dbSNP Id: rs2125319431
• gnomAD v4: 3-12584882-TCAC-T
• MyVariant Identifiers: chr3:g.12626382_12626384del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584883_12584885del , CM000665.2:g.12584883_12584885del	GRCh38
NC_000003.11:g.12626382_12626384del , CM000665.1:g.12626382_12626384del	GRCh37
NC_000003.10:g.12601382_12601384del	NCBI36
NG_007467.1:g.84295_84297del , LRG_413:g.84295_84297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1430_*1432del (RAF1)	ENSP00000401088.1:n.*1430_*1432del
ENST00000432427.3:c.1082_1084del (RAF1)
ENST00000460610.2:n.6077_6079del (RAF1)
ENST00000471449.2:n.575_577del (RAF1)
ENST00000475353.2:n.4045_4047del (RAF1)
ENST00000684903.1:c.*1442_*1444del (RAF1)	ENSP00000508612.1:n.*1442_*1444del
ENST00000685348.1:c.*1476_*1478del (RAF1)	ENSP00000510285.1:n.*1476_*1478del
ENST00000685437.1:c.1666_1668del (RAF1)	ENSP00000508794.1:p.Val556del
ENST00000685653.1:c.1765_1767del (RAF1)	ENSP00000509968.1:p.Val589del
ENST00000685697.1:n.2500_2502del (RAF1)
ENST00000685738.1:c.*729_*731del (RAF1)	ENSP00000510156.1:n.*729_*731del
ENST00000686409.1:n.5174_5176del (RAF1)
ENST00000686455.1:n.4486_4488del (RAF1)
ENST00000686762.1:c.*324_*326del (RAF1)	ENSP00000509767.1:n.*324_*326del
ENST00000687257.1:n.4219_4221del (RAF1)
ENST00000687326.1:c.*3057_*3059del (RAF1)	ENSP00000509665.1:n.*3057_*3059del
ENST00000687505.1:n.1883_1885del (RAF1)
ENST00000687923.1:c.1654_1656del (RAF1)	ENSP00000510255.1:p.Val552del
ENST00000688269.1:n.2361_2363del (RAF1)
ENST00000688444.1:n.3882_3884del (RAF1)
ENST00000688543.1:c.1666_1668del (RAF1)	ENSP00000509612.1:p.Val556del
ENST00000688625.1:c.*3134_*3136del (RAF1)	ENSP00000509522.1:n.*3134_*3136del
ENST00000688803.1:n.3193_3195del (RAF1)
ENST00000689097.1:c.*1442_*1444del (RAF1)	ENSP00000509756.1:n.*1442_*1444del
ENST00000689389.1:c.1588_1590del (RAF1)	ENSP00000510213.1:p.Val530del
ENST00000689418.1:c.*3660_*3662del (RAF1)	ENSP00000509467.1:n.*3660_*3662del
ENST00000689540.1:n.4133_4135del (RAF1)
ENST00000689876.1:c.*314_*316del (RAF1)	ENSP00000508535.1:n.*314_*316del
ENST00000689914.1:c.*699_*701del (RAF1)	ENSP00000509847.1:n.*699_*701del
ENST00000690397.1:c.1654_1656del (RAF1)	ENSP00000508730.1:p.Val552del
ENST00000690460.1:c.1753_1755del (RAF1)	ENSP00000509106.1:p.Val585del
ENST00000690585.1:c.491_493del (RAF1)
ENST00000690625.1:n.2801_2803del (RAF1)
ENST00000691396.1:c.*1637_*1639del (RAF1)	ENSP00000510712.1:n.*1637_*1639del
ENST00000691643.1:n.2818_2820del (RAF1)
ENST00000691724.1:c.*722_*724del (RAF1)	ENSP00000509255.1:n.*722_*724del
ENST00000691779.1:c.*1343_*1345del (RAF1)	ENSP00000508592.1:n.*1343_*1345del
ENST00000691888.1:c.639_641del (RAF1)
ENST00000691899.1:c.1765_1767del (RAF1)	ENSP00000508763.1:p.Val589del
ENST00000692069.1:n.4689_4691del (RAF1)
ENST00000692093.1:c.1666_1668del (RAF1)	ENSP00000509669.1:p.Val556del
ENST00000692311.1:n.2589_2591del (RAF1)
ENST00000692558.1:n.4348_4350del (RAF1)
ENST00000692773.1:c.*1502_*1504del (RAF1)	ENSP00000509055.1:n.*1502_*1504del
ENST00000692830.1:c.*1510_*1512del (RAF1)	ENSP00000509461.1:n.*1510_*1512del
ENST00000693312.1:c.1540_1542del (RAF1)	ENSP00000508686.1:p.Val514del
ENST00000693664.1:c.*216_*218del (RAF1)	ENSP00000509614.1:n.*216_*218del
ENST00000693705.1:c.*1144_*1146del (RAF1)	ENSP00000510697.1:n.*1144_*1146del
ENST00000251849.9:c.1765_1767del (RAF1) MANE Select	ENSP00000251849.4:p.Val589del
ENST00000442415.7:c.1825_1827del (RAF1)	ENSP00000401888.2:p.Val609del
ENST00000676541.1:c.*2630_*2632del (MKRN2)	ENSP00000503730.1:n.*2630_*2632del
ENST00000677142.1:c.*2630_*2632del (MKRN2)	ENSP00000504455.1:n.*2630_*2632del
ENST00000677816.1:c.*1185_*1187del (MKRN2)	ENSP00000502893.1:n.*1185_*1187del
ENST00000677941.1:n.2693_2695del (MKRN2)
ENST00000251849.8:c.1765_1767del (RAF1)	ENSP00000251849.4:p.Val589del
ENST00000423275.5:c.*1442_*1444del (RAF1)	ENSP00000401088.1:n.*1442_*1444del
ENST00000432427.2:c.1402_1404del (RAF1)	ENSP00000398591.2:p.Val468del
ENST00000442415.6:c.1825_1827del (RAF1)	ENSP00000401888.2:p.Val609del
ENST00000471449.1:n.454_456del (RAF1)
NM_002880.3:c.1765_1767del , LRG_413t1:c.1765_1767del (RAF1)	NP_002871.1:p.Val589del
XM_005265355.1:c.1765_1767del (RAF1)	XP_005265412.1:p.Val589del
XM_005265357.1:c.1666_1668del (RAF1)	XP_005265414.1:p.Val556del
XM_005265358.3:c.1522_1524del (RAF1)	XP_005265415.1:p.Val508del
XM_005265359.3:c.1423_1425del (RAF1)	XP_005265416.1:p.Val475del
XM_011533974.1:c.1765_1767del (RAF1)	XP_011532276.1:p.Val589del
XM_011533975.1:c.1522_1524del (RAF1)	XP_011532277.1:p.Val508del
NM_001354689.1:c.1825_1827del (RAF1)	NP_001341618.1:p.Val609del
NM_001354690.1:c.1765_1767del (RAF1)	NP_001341619.1:p.Val589del
NM_001354691.1:c.1522_1524del (RAF1)	NP_001341620.1:p.Val508del
NM_001354692.1:c.1522_1524del (RAF1)	NP_001341621.1:p.Val508del
NM_001354693.1:c.1666_1668del (RAF1)	NP_001341622.1:p.Val556del
NM_001354694.1:c.1582_1584del (RAF1)	NP_001341623.1:p.Val528del
NM_001354695.1:c.1423_1425del (RAF1)	NP_001341624.1:p.Val475del
NR_148940.1:n.2293_2295del (RAF1)
NR_148941.1:n.2239_2241del (RAF1)
NR_148942.1:n.2178_2180del (RAF1)
XM_011533974.3:c.1765_1767del (RAF1)	XP_011532276.1:p.Val589del
XM_017006966.1:c.1666_1668del (RAF1)	XP_016862455.1:p.Val556del
NM_001354689.3:c.1825_1827del (RAF1)	NP_001341618.1:p.Val609del
NM_001354690.2:c.1765_1767del (RAF1)	NP_001341619.1:p.Val589del
NM_001354691.2:c.1522_1524del (RAF1)	NP_001341620.1:p.Val508del
NM_001354692.2:c.1522_1524del (RAF1)	NP_001341621.1:p.Val508del
NM_001354693.2:c.1666_1668del (RAF1)	NP_001341622.1:p.Val556del
NM_001354694.2:c.1582_1584del (RAF1)	NP_001341623.1:p.Val528del
NM_001354695.2:c.1423_1425del (RAF1)	NP_001341624.1:p.Val475del
NR_148940.2:n.2209_2211del (RAF1)
NR_148941.2:n.2155_2157del (RAF1)
NR_148942.2:n.2094_2096del (RAF1)
NM_001354690.3:c.1765_1767del (RAF1)	NP_001341619.1:p.Val589del
NM_001354691.3:c.1522_1524del (RAF1)	NP_001341620.1:p.Val508del
NM_001354692.3:c.1522_1524del (RAF1)	NP_001341621.1:p.Val508del
NM_001354693.3:c.1666_1668del (RAF1)	NP_001341622.1:p.Val556del
NM_001354694.3:c.1582_1584del (RAF1)	NP_001341623.1:p.Val528del
NM_001354695.3:c.1423_1425del (RAF1)	NP_001341624.1:p.Val475del
NM_002880.4:c.1765_1767del (RAF1) MANE Select	NP_002871.1:p.Val589del
NR_148940.3:n.2209_2211del (RAF1)
NR_148941.3:n.2155_2157del (RAF1)
NR_148942.3:n.2094_2096del (RAF1)