Canonical Allele Identifier: CA1751423458

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811054_148811058delinsGCCAC , CM000669.2:g.148811054_148811058delinsGCCAC	GRCh38
NC_000007.13:g.148508146_148508150delinsGCCAC , CM000669.1:g.148508146_148508150delinsGCCAC	GRCh37
NC_000007.12:g.148139079_148139083delinsGCCAC	NCBI36
NG_032043.1:g.78292_78296delinsGTGGC , LRG_531:g.78292_78296delinsGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3847+567_3847+571delinsGTGGC
ENST00000682317.1:c.*1009+567_*1009+571delinsGTGGC	ENSP00000508286.1:n.*1009+567_*1009+571delinsGTGGC
ENST00000683292.1:c.*843+567_*843+571delinsGTGGC	ENSP00000507503.1:n.*843+567_*843+571delinsGTGGC
ENST00000683293.1:n.3666+567_3666+571delinsGTGGC
ENST00000683744.1:c.*1009+567_*1009+571delinsGTGGC	ENSP00000506949.1:n.*1009+567_*1009+571delinsGTGGC
ENST00000684300.1:c.*1009+567_*1009+571delinsGTGGC	ENSP00000508407.1:n.*1009+567_*1009+571delinsGTGGC
ENST00000684400.1:n.2838+567_2838+571delinsGTGGC
ENST00000684436.1:n.2263+567_2263+571delinsGTGGC
ENST00000684510.1:n.2325+567_2325+571delinsGTGGC
ENST00000320356.7:c.1947+567_1947+571delinsGTGGC MANE Select	ENSP00000320147.2:n.1947+567_1947+571delinsGTGGC
ENST00000320356.6:c.1947+567_1947+571delinsGTGGC	ENSP00000320147.2:n.1947+567_1947+571delinsGTGGC
ENST00000350995.6:c.1815+567_1815+571delinsGTGGC	ENSP00000223193.2:n.1815+567_1815+571delinsGTGGC
ENST00000460911.5:c.1932+567_1932+571delinsGTGGC	ENSP00000419711.1:n.1932+567_1932+571delinsGTGGC
ENST00000469631.1:n.199+567_199+571delinsGTGGC
ENST00000476773.5:c.1779+567_1779+571delinsGTGGC	ENSP00000419050.1:n.1779+567_1779+571delinsGTGGC
ENST00000478654.5:c.1779+567_1779+571delinsGTGGC	ENSP00000417062.1:n.1779+567_1779+571delinsGTGGC
ENST00000483967.5:c.1905+567_1905+571delinsGTGGC	ENSP00000419856.1:n.1905+567_1905+571delinsGTGGC
ENST00000492143.5:c.*1937+567_*1937+571delinsGTGGC	ENSP00000417377.1:n.*1937+567_*1937+571delinsGTGGC
NM_001203247.1:c.1932+567_1932+571delinsGTGGC	NP_001190176.1:n.1932+567_1932+571delinsGTGGC
NM_001203248.1:c.1905+567_1905+571delinsGTGGC	NP_001190177.1:n.1905+567_1905+571delinsGTGGC
NM_001203249.1:c.1779+567_1779+571delinsGTGGC	NP_001190178.1:n.1779+567_1779+571delinsGTGGC
NM_004456.4:c.1947+567_1947+571delinsGTGGC , LRG_531t1:c.1947+567_1947+571delinsGTGGC	NP_004447.2:n.1947+567_1947+571delinsGTGGC
NM_152998.2:c.1815+567_1815+571delinsGTGGC	NP_694543.1:n.1815+567_1815+571delinsGTGGC
XM_005249962.3:c.1956+567_1956+571delinsGTGGC	XP_005250019.1:n.1956+567_1956+571delinsGTGGC
XM_005249963.3:c.1929+567_1929+571delinsGTGGC	XP_005250020.1:n.1929+567_1929+571delinsGTGGC
XM_005249964.3:c.1803+567_1803+571delinsGTGGC	XP_005250021.1:n.1803+567_1803+571delinsGTGGC
XM_011515883.1:c.1971+567_1971+571delinsGTGGC	XP_011514185.1:n.1971+567_1971+571delinsGTGGC
XM_011515884.1:c.1947+567_1947+571delinsGTGGC	XP_011514186.1:n.1947+567_1947+571delinsGTGGC
XM_011515885.1:c.1944+567_1944+571delinsGTGGC	XP_011514187.1:n.1944+567_1944+571delinsGTGGC
XM_011515886.1:c.1923+567_1923+571delinsGTGGC	XP_011514188.1:n.1923+567_1923+571delinsGTGGC
XM_011515887.1:c.1920+567_1920+571delinsGTGGC	XP_011514189.1:n.1920+567_1920+571delinsGTGGC
XM_011515888.1:c.1920+567_1920+571delinsGTGGC	XP_011514190.1:n.1920+567_1920+571delinsGTGGC
XM_011515889.1:c.1881+567_1881+571delinsGTGGC	XP_011514191.1:n.1881+567_1881+571delinsGTGGC
XM_011515890.1:c.1854+567_1854+571delinsGTGGC	XP_011514192.1:n.1854+567_1854+571delinsGTGGC
XM_011515891.1:c.1848+567_1848+571delinsGTGGC	XP_011514193.1:n.1848+567_1848+571delinsGTGGC
XM_011515892.1:c.1845+567_1845+571delinsGTGGC	XP_011514194.1:n.1845+567_1845+571delinsGTGGC
XM_011515893.1:c.1839+567_1839+571delinsGTGGC	XP_011514195.1:n.1839+567_1839+571delinsGTGGC
XM_011515894.1:c.1830+567_1830+571delinsGTGGC	XP_011514196.1:n.1830+567_1830+571delinsGTGGC
XM_011515895.1:c.1827+567_1827+571delinsGTGGC	XP_011514197.1:n.1827+567_1827+571delinsGTGGC
XM_011515896.1:c.1713+567_1713+571delinsGTGGC	XP_011514198.1:n.1713+567_1713+571delinsGTGGC
XM_011515897.1:c.1620+567_1620+571delinsGTGGC	XP_011514199.1:n.1620+567_1620+571delinsGTGGC
XM_011515898.1:c.1620+567_1620+571delinsGTGGC	XP_011514200.1:n.1620+567_1620+571delinsGTGGC
XR_928101.1:n.515+5969_515+5973delinsGCCAC
XR_928102.1:n.722+5969_722+5973delinsGCCAC
XM_005249962.4:c.1956+567_1956+571delinsGTGGC	XP_005250019.1:n.1956+567_1956+571delinsGTGGC
XM_005249963.4:c.1929+567_1929+571delinsGTGGC	XP_005250020.1:n.1929+567_1929+571delinsGTGGC
XM_005249964.4:c.1803+567_1803+571delinsGTGGC	XP_005250021.1:n.1803+567_1803+571delinsGTGGC
XM_011515883.2:c.1971+567_1971+571delinsGTGGC	XP_011514185.1:n.1971+567_1971+571delinsGTGGC
XM_011515884.2:c.1947+567_1947+571delinsGTGGC	XP_011514186.1:n.1947+567_1947+571delinsGTGGC
XM_011515885.2:c.1944+567_1944+571delinsGTGGC	XP_011514187.1:n.1944+567_1944+571delinsGTGGC
XM_011515886.2:c.1923+567_1923+571delinsGTGGC	XP_011514188.1:n.1923+567_1923+571delinsGTGGC
XM_011515887.3:c.1920+567_1920+571delinsGTGGC	XP_011514189.1:n.1920+567_1920+571delinsGTGGC
XM_011515888.2:c.1920+567_1920+571delinsGTGGC	XP_011514190.1:n.1920+567_1920+571delinsGTGGC
XM_011515889.2:c.1881+567_1881+571delinsGTGGC	XP_011514191.1:n.1881+567_1881+571delinsGTGGC
XM_011515890.2:c.1854+567_1854+571delinsGTGGC	XP_011514192.1:n.1854+567_1854+571delinsGTGGC
XM_011515891.3:c.1848+567_1848+571delinsGTGGC	XP_011514193.1:n.1848+567_1848+571delinsGTGGC
XM_011515892.2:c.1845+567_1845+571delinsGTGGC	XP_011514194.1:n.1845+567_1845+571delinsGTGGC
XM_011515893.2:c.1839+567_1839+571delinsGTGGC	XP_011514195.1:n.1839+567_1839+571delinsGTGGC
XM_011515894.2:c.1830+567_1830+571delinsGTGGC	XP_011514196.1:n.1830+567_1830+571delinsGTGGC
XM_011515895.2:c.1827+567_1827+571delinsGTGGC	XP_011514197.1:n.1827+567_1827+571delinsGTGGC
XM_011515896.2:c.1713+567_1713+571delinsGTGGC	XP_011514198.1:n.1713+567_1713+571delinsGTGGC
XM_011515897.2:c.1620+567_1620+571delinsGTGGC	XP_011514199.1:n.1620+567_1620+571delinsGTGGC
XM_011515898.2:c.1620+567_1620+571delinsGTGGC	XP_011514200.1:n.1620+567_1620+571delinsGTGGC
XM_017011817.2:c.1971+567_1971+571delinsGTGGC	XP_016867306.1:n.1971+567_1971+571delinsGTGGC
XM_017011818.1:c.1908+567_1908+571delinsGTGGC	XP_016867307.1:n.1908+567_1908+571delinsGTGGC
XM_017011819.1:c.1830+567_1830+571delinsGTGGC	XP_016867308.1:n.1830+567_1830+571delinsGTGGC
XM_017011820.2:c.1803+567_1803+571delinsGTGGC	XP_016867309.1:n.1803+567_1803+571delinsGTGGC
XM_017011821.1:c.1605+567_1605+571delinsGTGGC	XP_016867310.1:n.1605+567_1605+571delinsGTGGC
XM_024446680.1:c.1833+567_1833+571delinsGTGGC	XP_024302448.1:n.1833+567_1833+571delinsGTGGC
XR_001744581.1:n.4321+567_4321+571delinsGTGGC
XR_002956413.1:n.4977+567_4977+571delinsGTGGC
XR_002956414.1:n.5437+567_5437+571delinsGTGGC
NM_001203247.2:c.1932+567_1932+571delinsGTGGC	NP_001190176.1:n.1932+567_1932+571delinsGTGGC
NM_001203248.2:c.1905+567_1905+571delinsGTGGC	NP_001190177.1:n.1905+567_1905+571delinsGTGGC
NM_001203249.2:c.1779+567_1779+571delinsGTGGC	NP_001190178.1:n.1779+567_1779+571delinsGTGGC
NM_004456.5:c.1947+567_1947+571delinsGTGGC MANE Select	NP_004447.2:n.1947+567_1947+571delinsGTGGC
NM_152998.3:c.1815+567_1815+571delinsGTGGC	NP_694543.1:n.1815+567_1815+571delinsGTGGC