Canonical Allele Identifier: CA2685463942

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807384-ACAAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807390_148807395del , CM000669.2:g.148807390_148807395del	GRCh38
NC_000007.13:g.148504482_148504487del , CM000669.1:g.148504482_148504487del	GRCh37
NC_000007.12:g.148135415_148135420del	NCBI36
NG_032043.1:g.81960_81965del , LRG_531:g.81960_81965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1408_*1413del	ENSP00000507503.1:n.*1408_*1413del
ENST00000320356.7:c.*256_*261del MANE Select	ENSP00000320147.2:n.*256_*261del
ENST00000320356.6:c.*256_*261del	ENSP00000320147.2:n.*256_*261del
ENST00000350995.6:c.*256_*261del	ENSP00000223193.2:n.*256_*261del
ENST00000460911.5:c.*256_*261del	ENSP00000419711.1:n.*256_*261del
ENST00000478654.5:c.*256_*261del	ENSP00000417062.1:n.*256_*261del
ENST00000492143.5:c.*2502_*2507del	ENSP00000417377.1:n.*2502_*2507del
NM_001203247.1:c.*256_*261del	NP_001190176.1:n.*256_*261del
NM_001203248.1:c.*256_*261del	NP_001190177.1:n.*256_*261del
NM_001203249.1:c.*256_*261del	NP_001190178.1:n.*256_*261del
NM_004456.4:c.*256_*261del , LRG_531t1:c.*256_*261del	NP_004447.2:n.*256_*261del
NM_152998.2:c.*256_*261del	NP_694543.1:n.*256_*261del
XM_005249962.3:c.*256_*261del	XP_005250019.1:n.*256_*261del
XM_005249963.3:c.*256_*261del	XP_005250020.1:n.*256_*261del
XM_005249964.3:c.*256_*261del	XP_005250021.1:n.*256_*261del
XM_011515883.1:c.*256_*261del	XP_011514185.1:n.*256_*261del
XM_011515884.1:c.*256_*261del	XP_011514186.1:n.*256_*261del
XM_011515885.1:c.*256_*261del	XP_011514187.1:n.*256_*261del
XM_011515886.1:c.*256_*261del	XP_011514188.1:n.*256_*261del
XM_011515887.1:c.*256_*261del	XP_011514189.1:n.*256_*261del
XM_011515888.1:c.*256_*261del	XP_011514190.1:n.*256_*261del
XM_011515889.1:c.*256_*261del	XP_011514191.1:n.*256_*261del
XM_011515890.1:c.*256_*261del	XP_011514192.1:n.*256_*261del
XM_011515891.1:c.*256_*261del	XP_011514193.1:n.*256_*261del
XM_011515892.1:c.*256_*261del	XP_011514194.1:n.*256_*261del
XM_011515893.1:c.*256_*261del	XP_011514195.1:n.*256_*261del
XM_011515894.1:c.*256_*261del	XP_011514196.1:n.*256_*261del
XM_011515895.1:c.*256_*261del	XP_011514197.1:n.*256_*261del
XM_011515896.1:c.*256_*261del	XP_011514198.1:n.*256_*261del
XM_011515897.1:c.*256_*261del	XP_011514199.1:n.*256_*261del
XM_011515898.1:c.*256_*261del	XP_011514200.1:n.*256_*261del
XR_928101.1:n.515+2305_515+2310del
XR_928102.1:n.722+2305_722+2310del
XM_005249962.4:c.*256_*261del	XP_005250019.1:n.*256_*261del
XM_005249963.4:c.*256_*261del	XP_005250020.1:n.*256_*261del
XM_005249964.4:c.*256_*261del	XP_005250021.1:n.*256_*261del
XM_011515883.2:c.*256_*261del	XP_011514185.1:n.*256_*261del
XM_011515884.2:c.*256_*261del	XP_011514186.1:n.*256_*261del
XM_011515885.2:c.*256_*261del	XP_011514187.1:n.*256_*261del
XM_011515886.2:c.*256_*261del	XP_011514188.1:n.*256_*261del
XM_011515887.3:c.*256_*261del	XP_011514189.1:n.*256_*261del
XM_011515888.2:c.*256_*261del	XP_011514190.1:n.*256_*261del
XM_011515889.2:c.*256_*261del	XP_011514191.1:n.*256_*261del
XM_011515890.2:c.*256_*261del	XP_011514192.1:n.*256_*261del
XM_011515891.3:c.*256_*261del	XP_011514193.1:n.*256_*261del
XM_011515892.2:c.*256_*261del	XP_011514194.1:n.*256_*261del
XM_011515893.2:c.*256_*261del	XP_011514195.1:n.*256_*261del
XM_011515894.2:c.*256_*261del	XP_011514196.1:n.*256_*261del
XM_011515895.2:c.*256_*261del	XP_011514197.1:n.*256_*261del
XM_011515896.2:c.*256_*261del	XP_011514198.1:n.*256_*261del
XM_011515897.2:c.*256_*261del	XP_011514199.1:n.*256_*261del
XM_011515898.2:c.*256_*261del	XP_011514200.1:n.*256_*261del
XM_017011817.2:c.*256_*261del	XP_016867306.1:n.*256_*261del
XM_017011818.1:c.*256_*261del	XP_016867307.1:n.*256_*261del
XM_017011819.1:c.*256_*261del	XP_016867308.1:n.*256_*261del
XM_017011820.2:c.*256_*261del	XP_016867309.1:n.*256_*261del
XM_017011821.1:c.*256_*261del	XP_016867310.1:n.*256_*261del
XM_024446680.1:c.*256_*261del	XP_024302448.1:n.*256_*261del
XR_001744581.1:n.4886_4891del
XR_002956413.1:n.5542_5547del
XR_002956414.1:n.6002_6007del
NM_001203247.2:c.*256_*261del	NP_001190176.1:n.*256_*261del
NM_001203248.2:c.*256_*261del	NP_001190177.1:n.*256_*261del
NM_001203249.2:c.*256_*261del	NP_001190178.1:n.*256_*261del
NM_004456.5:c.*256_*261del MANE Select	NP_004447.2:n.*256_*261del
NM_152998.3:c.*256_*261del	NP_694543.1:n.*256_*261del