Canonical Allele Identifier: CA645563916

Gene: EZH2

Linked Data

• COSMIC: COSM6023057

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807664_148807672delinsCCTCTC , CM000669.2:g.148807664_148807672delinsCCTCTC	GRCh38
NC_000007.13:g.148504756_148504764delinsCCTCTC , CM000669.1:g.148504756_148504764delinsCCTCTC	GRCh37
NC_000007.12:g.148135689_148135697delinsCCTCTC	NCBI36
NG_032043.1:g.81678_81686delinsGAGAGG , LRG_531:g.81678_81686delinsGAGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4130_4138delinsGAGAGG
ENST00000682317.1:c.*1292_*1300delinsGAGAGG	ENSP00000508286.1:n.*1292_*1300delinsGAGA...
ENST00000683292.1:c.*1126_*1134delinsGAGAGG	ENSP00000507503.1:n.*1126_*1134delinsGAGA...
ENST00000683293.1:n.3949_3957delinsGAGAGG
ENST00000683744.1:c.*1292_*1300delinsGAGAGG	ENSP00000506949.1:n.*1292_*1300delinsGAGA...
ENST00000684300.1:c.*1292_*1300delinsGAGAGG	ENSP00000508407.1:n.*1292_*1300delinsGAGA...
ENST00000684400.1:n.4217_4225delinsGAGAGG
ENST00000684436.1:n.2546_2554delinsGAGAGG
ENST00000684510.1:n.2608_2616delinsGAGAGG
ENST00000320356.7:c.2230_2238delinsGAGAGG MANE Select	ENSP00000320147.2:p.Ile744del
ENST00000320356.6:c.2230_2238delinsGAGAGG	ENSP00000320147.2:p.Ile744del
ENST00000350995.6:c.2098_2106delinsGAGAGG	ENSP00000223193.2:p.Ile700del
ENST00000460911.5:c.2215_2223delinsGAGAGG	ENSP00000419711.1:p.Ile739del
ENST00000476773.5:c.2062_2070delinsGAGAGG	ENSP00000419050.1:p.Ile688del
ENST00000478654.5:c.2062_2070delinsGAGAGG	ENSP00000417062.1:p.Ile688del
ENST00000483967.5:c.2188_2196delinsGAGAGG	ENSP00000419856.1:p.Ile730del
ENST00000492143.5:c.*2220_*2228delinsGAGAGG	ENSP00000417377.1:n.*2220_*2228delinsGAGA...
NM_001203247.1:c.2215_2223delinsGAGAGG	NP_001190176.1:p.Ile739del
NM_001203248.1:c.2188_2196delinsGAGAGG	NP_001190177.1:p.Ile730del
NM_001203249.1:c.2062_2070delinsGAGAGG	NP_001190178.1:p.Ile688del
NM_004456.4:c.2230_2238delinsGAGAGG , LRG_531t1:c.2230_2238delinsGAGAGG	NP_004447.2:p.Ile744del
NM_152998.2:c.2098_2106delinsGAGAGG	NP_694543.1:p.Ile700del
XM_005249962.3:c.2239_2247delinsGAGAGG	XP_005250019.1:p.Ile747del
XM_005249963.3:c.2212_2220delinsGAGAGG	XP_005250020.1:p.Ile738del
XM_005249964.3:c.2086_2094delinsGAGAGG	XP_005250021.1:p.Ile696del
XM_011515883.1:c.2254_2262delinsGAGAGG	XP_011514185.1:p.Ile752del
XM_011515884.1:c.2230_2238delinsGAGAGG	XP_011514186.1:p.Ile744del
XM_011515885.1:c.2227_2235delinsGAGAGG	XP_011514187.1:p.Ile743del
XM_011515886.1:c.2206_2214delinsGAGAGG	XP_011514188.1:p.Ile736del
XM_011515887.1:c.2203_2211delinsGAGAGG	XP_011514189.1:p.Ile735del
XM_011515888.1:c.2203_2211delinsGAGAGG	XP_011514190.1:p.Ile735del
XM_011515889.1:c.2164_2172delinsGAGAGG	XP_011514191.1:p.Ile722del
XM_011515890.1:c.2137_2145delinsGAGAGG	XP_011514192.1:p.Ile713del
XM_011515891.1:c.2131_2139delinsGAGAGG	XP_011514193.1:p.Ile711del
XM_011515892.1:c.2128_2136delinsGAGAGG	XP_011514194.1:p.Ile710del
XM_011515893.1:c.2122_2130delinsGAGAGG	XP_011514195.1:p.Ile708del
XM_011515894.1:c.2113_2121delinsGAGAGG	XP_011514196.1:p.Ile705del
XM_011515895.1:c.2110_2118delinsGAGAGG	XP_011514197.1:p.Ile704del
XM_011515896.1:c.1996_2004delinsGAGAGG	XP_011514198.1:p.Ile666del
XM_011515897.1:c.1903_1911delinsGAGAGG	XP_011514199.1:p.Ile635del
XM_011515898.1:c.1903_1911delinsGAGAGG	XP_011514200.1:p.Ile635del
XR_928101.1:n.515+2579_515+2587delinsCCTCTC
XR_928102.1:n.722+2579_722+2587delinsCCTCTC
XM_005249962.4:c.2239_2247delinsGAGAGG	XP_005250019.1:p.Ile747del
XM_005249963.4:c.2212_2220delinsGAGAGG	XP_005250020.1:p.Ile738del
XM_005249964.4:c.2086_2094delinsGAGAGG	XP_005250021.1:p.Ile696del
XM_011515883.2:c.2254_2262delinsGAGAGG	XP_011514185.1:p.Ile752del
XM_011515884.2:c.2230_2238delinsGAGAGG	XP_011514186.1:p.Ile744del
XM_011515885.2:c.2227_2235delinsGAGAGG	XP_011514187.1:p.Ile743del
XM_011515886.2:c.2206_2214delinsGAGAGG	XP_011514188.1:p.Ile736del
XM_011515887.3:c.2203_2211delinsGAGAGG	XP_011514189.1:p.Ile735del
XM_011515888.2:c.2203_2211delinsGAGAGG	XP_011514190.1:p.Ile735del
XM_011515889.2:c.2164_2172delinsGAGAGG	XP_011514191.1:p.Ile722del
XM_011515890.2:c.2137_2145delinsGAGAGG	XP_011514192.1:p.Ile713del
XM_011515891.3:c.2131_2139delinsGAGAGG	XP_011514193.1:p.Ile711del
XM_011515892.2:c.2128_2136delinsGAGAGG	XP_011514194.1:p.Ile710del
XM_011515893.2:c.2122_2130delinsGAGAGG	XP_011514195.1:p.Ile708del
XM_011515894.2:c.2113_2121delinsGAGAGG	XP_011514196.1:p.Ile705del
XM_011515895.2:c.2110_2118delinsGAGAGG	XP_011514197.1:p.Ile704del
XM_011515896.2:c.1996_2004delinsGAGAGG	XP_011514198.1:p.Ile666del
XM_011515897.2:c.1903_1911delinsGAGAGG	XP_011514199.1:p.Ile635del
XM_011515898.2:c.1903_1911delinsGAGAGG	XP_011514200.1:p.Ile635del
XM_017011817.2:c.2254_2262delinsGAGAGG	XP_016867306.1:p.Ile752del
XM_017011818.1:c.2191_2199delinsGAGAGG	XP_016867307.1:p.Ile731del
XM_017011819.1:c.2113_2121delinsGAGAGG	XP_016867308.1:p.Ile705del
XM_017011820.2:c.2086_2094delinsGAGAGG	XP_016867309.1:p.Ile696del
XM_017011821.1:c.1888_1896delinsGAGAGG	XP_016867310.1:p.Ile630del
XM_024446680.1:c.2116_2124delinsGAGAGG	XP_024302448.1:p.Ile706del
XR_001744581.1:n.4604_4612delinsGAGAGG
XR_002956413.1:n.5260_5268delinsGAGAGG
XR_002956414.1:n.5720_5728delinsGAGAGG
NM_001203247.2:c.2215_2223delinsGAGAGG	NP_001190176.1:p.Ile739del
NM_001203248.2:c.2188_2196delinsGAGAGG	NP_001190177.1:p.Ile730del
NM_001203249.2:c.2062_2070delinsGAGAGG	NP_001190178.1:p.Ile688del
NM_004456.5:c.2230_2238delinsGAGAGG MANE Select	NP_004447.2:p.Ile744del
NM_152998.3:c.2098_2106delinsGAGAGG	NP_694543.1:p.Ile700del