Canonical Allele Identifier: CA1751419088

Gene: EZH2

Linked Data

• dbSNP Id: rs1801750039
• gnomAD v4: 7-148807371-TGATTCAACAAGGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807372_148807386del , CM000669.2:g.148807372_148807386del	GRCh38
NC_000007.13:g.148504464_148504478del , CM000669.1:g.148504464_148504478del	GRCh37
NC_000007.12:g.148135397_148135411del	NCBI36
NG_032043.1:g.81964_81978del , LRG_531:g.81964_81978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1412_*1426del	ENSP00000507503.1:n.*1412_*1426del
NM_001203247.1:c.*260_*274del	NP_001190176.1:n.*260_*274del
NM_001203248.1:c.*260_*274del	NP_001190177.1:n.*260_*274del
NM_001203249.1:c.*260_*274del	NP_001190178.1:n.*260_*274del
NM_004456.4:c.*260_*274del , LRG_531t1:c.*260_*274del	NP_004447.2:n.*260_*274del
NM_152998.2:c.*260_*274del	NP_694543.1:n.*260_*274del
XR_928101.1:n.515+2287_515+2301del
XR_928102.1:n.722+2287_722+2301del