Canonical Allele Identifier: CA2656909508

Gene: EP300

Linked Data

• gnomAD v4: 22-41160757-A-AGTTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160760_41160766dup , CM000684.2:g.41160760_41160766dup	GRCh38
NC_000022.10:g.41556764_41556770dup , CM000684.1:g.41556764_41556770dup	GRCh37
NC_000022.9:g.39886710_39886716dup	NCBI36
NG_009817.1:g.73151_73157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1591+38_*1591+44dup	ENSP00000515365.1:n.*1591+38_*1591+44dup
ENST00000263253.9:c.3671+38_3671+44dup MANE Select	ENSP00000263253.7:n.3671+38_3671+44dup
ENST00000674155.1:c.3593+38_3593+44dup	ENSP00000501078.1:n.3593+38_3593+44dup
ENST00000263253.8:c.3671+38_3671+44dup	ENSP00000263253.7:n.3671+38_3671+44dup
NM_001429.3:c.3671+38_3671+44dup	NP_001420.2:n.3671+38_3671+44dup
XM_006724165.2:c.3593+38_3593+44dup	XP_006724228.1:n.3593+38_3593+44dup
NM_001362843.1:c.3593+38_3593+44dup	NP_001349772.1:n.3593+38_3593+44dup
NM_001429.4:c.3671+38_3671+44dup MANE Select	NP_001420.2:n.3671+38_3671+44dup
NM_001362843.2:c.3593+38_3593+44dup	NP_001349772.1:n.3593+38_3593+44dup