Canonical Allele Identifier: CA16043636
Gene: EP300 HGNC NCBI

Linked Data

ClinVar Variation Id: 374252
ClinVar RCV Id: RCV000415048
dbSNP Id: rs1057519012

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41147866dup , CM000684.2:g.41147866dup GRCh38
NC_000022.10:g.41543870dup , CM000684.1:g.41543870dup GRCh37
NC_000022.9:g.39873816dup NCBI36
NG_009817.1:g.60257dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*81dup ENSP00000515365.1:n.*81dup
ENST00000703545.1:c.1951dup
ENST00000263253.9:c.2161dup MANE Select ENSP00000263253.7:p.Ala721GlyfsTer?
ENST00000674155.1:c.2083dup ENSP00000501078.1:p.Ala695GlyfsTer?
ENST00000263253.8:c.2161dup ENSP00000263253.7:p.Ala721GlyfsTer?
ENST00000634728.1:c.205dup ENSP00000488981.1:p.Ala69GlyfsTer?
ENST00000635538.1:n.294dup
NM_001429.3:c.2161dup NP_001420.2:p.Ala721GlyfsTer?
XM_006724165.2:c.2083dup XP_006724228.1:p.Ala695GlyfsTer?
NM_001362843.1:c.2083dup NP_001349772.1:p.Ala695GlyfsTer?
NM_001429.4:c.2161dup MANE Select NP_001420.2:p.Ala721GlyfsTer?
NM_001362843.2:c.2083dup NP_001349772.1:p.Ala695GlyfsTer?