Canonical Allele Identifier: CA645563943

Gene: EZH2

Linked Data

• COSMIC: COSM53014

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810366_148810371del , CM000669.2:g.148810366_148810371del	GRCh38
NC_000007.13:g.148507458_148507463del , CM000669.1:g.148507458_148507463del	GRCh37
NC_000007.12:g.148138391_148138396del	NCBI36
NG_032043.1:g.78980_78985del , LRG_531:g.78980_78985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3892_3897del
ENST00000682317.1:c.*1054_*1059del	ENSP00000508286.1:n.*1054_*1059del
ENST00000683292.1:c.*888_*893del	ENSP00000507503.1:n.*888_*893del
ENST00000683293.1:n.3711_3716del
ENST00000683744.1:c.*1054_*1059del	ENSP00000506949.1:n.*1054_*1059del
ENST00000684300.1:c.*1054_*1059del	ENSP00000508407.1:n.*1054_*1059del
ENST00000684400.1:n.2883_2888del
ENST00000684436.1:n.2308_2313del
ENST00000684510.1:n.2370_2375del
ENST00000320356.7:c.1992_1997del MANE Select	ENSP00000320147.2:p.Lys665_Tyr666del
ENST00000320356.6:c.1992_1997del	ENSP00000320147.2:p.Lys665_Tyr666del
ENST00000350995.6:c.1860_1865del	ENSP00000223193.2:p.Lys621_Tyr622del
ENST00000460911.5:c.1977_1982del	ENSP00000419711.1:p.Lys660_Tyr661del
ENST00000469631.1:n.244_249del
ENST00000476773.5:c.1824_1829del	ENSP00000419050.1:p.Lys609_Tyr610del
ENST00000478654.5:c.1824_1829del	ENSP00000417062.1:p.Lys609_Tyr610del
ENST00000483967.5:c.1950_1955del	ENSP00000419856.1:p.Lys651_Tyr652del
ENST00000492143.5:c.*1982_*1987del	ENSP00000417377.1:n.*1982_*1987del
NM_001203247.1:c.1977_1982del	NP_001190176.1:p.Lys660_Tyr661del
NM_001203248.1:c.1950_1955del	NP_001190177.1:p.Lys651_Tyr652del
NM_001203249.1:c.1824_1829del	NP_001190178.1:p.Lys609_Tyr610del
NM_004456.4:c.1992_1997del , LRG_531t1:c.1992_1997del	NP_004447.2:p.Lys665_Tyr666del
NM_152998.2:c.1860_1865del	NP_694543.1:p.Lys621_Tyr622del
XM_005249962.3:c.2001_2006del	XP_005250019.1:p.Lys668_Tyr669del
XM_005249963.3:c.1974_1979del	XP_005250020.1:p.Lys659_Tyr660del
XM_005249964.3:c.1848_1853del	XP_005250021.1:p.Lys617_Tyr618del
XM_011515883.1:c.2016_2021del	XP_011514185.1:p.Lys673_Tyr674del
XM_011515884.1:c.1992_1997del	XP_011514186.1:p.Lys665_Tyr666del
XM_011515885.1:c.1989_1994del	XP_011514187.1:p.Lys664_Tyr665del
XM_011515886.1:c.1968_1973del	XP_011514188.1:p.Lys657_Tyr658del
XM_011515887.1:c.1965_1970del	XP_011514189.1:p.Lys656_Tyr657del
XM_011515888.1:c.1965_1970del	XP_011514190.1:p.Lys656_Tyr657del
XM_011515889.1:c.1926_1931del	XP_011514191.1:p.Lys643_Tyr644del
XM_011515890.1:c.1899_1904del	XP_011514192.1:p.Lys634_Tyr635del
XM_011515891.1:c.1893_1898del	XP_011514193.1:p.Lys632_Tyr633del
XM_011515892.1:c.1890_1895del	XP_011514194.1:p.Lys631_Tyr632del
XM_011515893.1:c.1884_1889del	XP_011514195.1:p.Lys629_Tyr630del
XM_011515894.1:c.1875_1880del	XP_011514196.1:p.Lys626_Tyr627del
XM_011515895.1:c.1872_1877del	XP_011514197.1:p.Lys625_Tyr626del
XM_011515896.1:c.1758_1763del	XP_011514198.1:p.Lys587_Tyr588del
XM_011515897.1:c.1665_1670del	XP_011514199.1:p.Lys556_Tyr557del
XM_011515898.1:c.1665_1670del	XP_011514200.1:p.Lys556_Tyr557del
XR_928101.1:n.515+5281_515+5286del
XR_928102.1:n.722+5281_722+5286del
XM_005249962.4:c.2001_2006del	XP_005250019.1:p.Lys668_Tyr669del
XM_005249963.4:c.1974_1979del	XP_005250020.1:p.Lys659_Tyr660del
XM_005249964.4:c.1848_1853del	XP_005250021.1:p.Lys617_Tyr618del
XM_011515883.2:c.2016_2021del	XP_011514185.1:p.Lys673_Tyr674del
XM_011515884.2:c.1992_1997del	XP_011514186.1:p.Lys665_Tyr666del
XM_011515885.2:c.1989_1994del	XP_011514187.1:p.Lys664_Tyr665del
XM_011515886.2:c.1968_1973del	XP_011514188.1:p.Lys657_Tyr658del
XM_011515887.3:c.1965_1970del	XP_011514189.1:p.Lys656_Tyr657del
XM_011515888.2:c.1965_1970del	XP_011514190.1:p.Lys656_Tyr657del
XM_011515889.2:c.1926_1931del	XP_011514191.1:p.Lys643_Tyr644del
XM_011515890.2:c.1899_1904del	XP_011514192.1:p.Lys634_Tyr635del
XM_011515891.3:c.1893_1898del	XP_011514193.1:p.Lys632_Tyr633del
XM_011515892.2:c.1890_1895del	XP_011514194.1:p.Lys631_Tyr632del
XM_011515893.2:c.1884_1889del	XP_011514195.1:p.Lys629_Tyr630del
XM_011515894.2:c.1875_1880del	XP_011514196.1:p.Lys626_Tyr627del
XM_011515895.2:c.1872_1877del	XP_011514197.1:p.Lys625_Tyr626del
XM_011515896.2:c.1758_1763del	XP_011514198.1:p.Lys587_Tyr588del
XM_011515897.2:c.1665_1670del	XP_011514199.1:p.Lys556_Tyr557del
XM_011515898.2:c.1665_1670del	XP_011514200.1:p.Lys556_Tyr557del
XM_017011817.2:c.2016_2021del	XP_016867306.1:p.Lys673_Tyr674del
XM_017011818.1:c.1953_1958del	XP_016867307.1:p.Lys652_Tyr653del
XM_017011819.1:c.1875_1880del	XP_016867308.1:p.Lys626_Tyr627del
XM_017011820.2:c.1848_1853del	XP_016867309.1:p.Lys617_Tyr618del
XM_017011821.1:c.1650_1655del	XP_016867310.1:p.Lys551_Tyr552del
XM_024446680.1:c.1878_1883del	XP_024302448.1:p.Lys627_Tyr628del
XR_001744581.1:n.4366_4371del
XR_002956413.1:n.5022_5027del
XR_002956414.1:n.5482_5487del
NM_001203247.2:c.1977_1982del	NP_001190176.1:p.Lys660_Tyr661del
NM_001203248.2:c.1950_1955del	NP_001190177.1:p.Lys651_Tyr652del
NM_001203249.2:c.1824_1829del	NP_001190178.1:p.Lys609_Tyr610del
NM_004456.5:c.1992_1997del MANE Select	NP_004447.2:p.Lys665_Tyr666del
NM_152998.3:c.1860_1865del	NP_694543.1:p.Lys621_Tyr622del