Canonical Allele Identifier: CA2685463874
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807258-CAGTATT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807262_148807267del , CM000669.2:g.148807262_148807267del GRCh38
NC_000007.13:g.148504354_148504359del , CM000669.1:g.148504354_148504359del GRCh37
NC_000007.12:g.148135287_148135292del NCBI36
NG_032043.1:g.82086_82091del , LRG_531:g.82086_82091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1534_*1539del ENSP00000507503.1:n.*1534_*1539del
XR_928101.1:n.515+2177_515+2182del
XR_928102.1:n.722+2177_722+2182del
Search 100 bp 5'
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