Canonical Allele Identifier: CA2656906796

Gene: EP300

Linked Data

• gnomAD v4: 22-41147792-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147795dup , CM000684.2:g.41147795dup	GRCh38
NC_000022.10:g.41543799dup , CM000684.1:g.41543799dup	GRCh37
NC_000022.9:g.39873745dup	NCBI36
NG_009817.1:g.60186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*52-42dup	ENSP00000515365.1:n.*52-42dup
ENST00000703545.1:c.1922-42dup
ENST00000263253.9:c.2132-42dup MANE Select	ENSP00000263253.7:n.2132-42dup
ENST00000674155.1:c.2054-42dup	ENSP00000501078.1:n.2054-42dup
ENST00000263253.8:c.2132-42dup	ENSP00000263253.7:n.2132-42dup
ENST00000634728.1:c.176-42dup	ENSP00000488981.1:n.176-42dup
ENST00000635538.1:n.265-42dup
NM_001429.3:c.2132-42dup	NP_001420.2:n.2132-42dup
XM_006724165.2:c.2054-42dup	XP_006724228.1:n.2054-42dup
NM_001362843.1:c.2054-42dup	NP_001349772.1:n.2054-42dup
NM_001429.4:c.2132-42dup MANE Select	NP_001420.2:n.2132-42dup
NM_001362843.2:c.2054-42dup	NP_001349772.1:n.2054-42dup