Canonical Allele Identifier: CA639444243

Gene: EP300

Linked Data

• dbSNP Id: rs1196481663
• gnomAD v2: 22-41556608-CG-C
• gnomAD v3: 22-41160604-CG-C
• gnomAD v4: 22-41160604-CG-C
• MyVariant Identifiers: chr22:g.41556609del (hg19) ; chr22:g.41160605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160606del , CM000684.2:g.41160606del	GRCh38
NC_000022.10:g.41556610del , CM000684.1:g.41556610del	GRCh37
NC_000022.9:g.39886556del	NCBI36
NG_009817.1:g.72997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1511-36del	ENSP00000515365.1:n.*1511-36del
ENST00000263253.9:c.3591-36del MANE Select	ENSP00000263253.7:n.3591-36del
ENST00000674155.1:c.3513-36del	ENSP00000501078.1:n.3513-36del
ENST00000263253.8:c.3591-36del	ENSP00000263253.7:n.3591-36del
NM_001429.3:c.3591-36del	NP_001420.2:n.3591-36del
XM_006724165.2:c.3513-36del	XP_006724228.1:n.3513-36del
NM_001362843.1:c.3513-36del	NP_001349772.1:n.3513-36del
NM_001429.4:c.3591-36del MANE Select	NP_001420.2:n.3591-36del
NM_001362843.2:c.3513-36del	NP_001349772.1:n.3513-36del