Canonical Allele Identifier: CA2819027613

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147876dup , CM000684.2:g.41147876dup	GRCh38
NC_000022.10:g.41543880dup , CM000684.1:g.41543880dup	GRCh37
NC_000022.9:g.39873826dup	NCBI36
NG_009817.1:g.60267dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*91dup	ENSP00000515365.1:n.*91dup
ENST00000703545.1:c.1961dup
ENST00000263253.9:c.2171dup MANE Select	ENSP00000263253.7:p.Ile725TyrfsTer?
ENST00000674155.1:c.2093dup	ENSP00000501078.1:p.Ile699TyrfsTer?
ENST00000263253.8:c.2171dup	ENSP00000263253.7:p.Ile725TyrfsTer?
ENST00000634728.1:c.215dup	ENSP00000488981.1:p.Ile73TyrfsTer?
ENST00000635538.1:n.304dup
NM_001429.3:c.2171dup	NP_001420.2:p.Ile725TyrfsTer?
XM_006724165.2:c.2093dup	XP_006724228.1:p.Ile699TyrfsTer?
NM_001362843.1:c.2093dup	NP_001349772.1:p.Ile699TyrfsTer?
NM_001429.4:c.2171dup MANE Select	NP_001420.2:p.Ile725TyrfsTer?
NM_001362843.2:c.2093dup	NP_001349772.1:p.Ile699TyrfsTer?