Canonical Allele Identifier: CA2695230901

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160701dup , CM000684.2:g.41160701dup	GRCh38
NC_000022.10:g.41556705dup , CM000684.1:g.41556705dup	GRCh37
NC_000022.9:g.39886651dup	NCBI36
NG_009817.1:g.73092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1570dup	ENSP00000515365.1:n.*1570dup
ENST00000263253.9:c.3650dup MANE Select	ENSP00000263253.7:p.Asp1217GlufsTer2
ENST00000674155.1:c.3572dup	ENSP00000501078.1:p.Asp1191GlufsTer2
ENST00000263253.8:c.3650dup	ENSP00000263253.7:p.Asp1217GlufsTer2
NM_001429.3:c.3650dup	NP_001420.2:p.Asp1217GlufsTer2
XM_006724165.2:c.3572dup	XP_006724228.1:p.Asp1191GlufsTer2
NM_001362843.1:c.3572dup	NP_001349772.1:p.Asp1191GlufsTer2
NM_001429.4:c.3650dup MANE Select	NP_001420.2:p.Asp1217GlufsTer2
NM_001362843.2:c.3572dup	NP_001349772.1:p.Asp1191GlufsTer2