Canonical Allele Identifier: CA645509367

Gene: EP300

Linked Data

• ClinVar Variation Id: 264649
• ClinVar RCV Id: RCV000508685
• dbSNP Id: rs1555902247
• MyVariant Identifiers: chr22:g.41489078_41489079del (hg19) ; chr22:g.41093074_41093075del (hg38)
• PubMed: PMID:29506490

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41093074_41093075del , CM000684.2:g.41093074_41093075del	GRCh38
NC_000022.10:g.41489078_41489079del , CM000684.1:g.41489078_41489079del	GRCh37
NC_000022.9:g.39819024_39819025del	NCBI36
NG_009817.1:g.5465_5466del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.70_71del	ENSP00000515365.1:p.Ser24GlyfsTer14
ENST00000263253.9:c.70_71del MANE Select	ENSP00000263253.7:p.Ser24GlyfsTer14
ENST00000674155.1:c.70_71del	ENSP00000501078.1:p.Ser24GlyfsTer14
ENST00000263253.8:c.70_71del	ENSP00000263253.7:p.Ser24GlyfsTer14
NM_001429.3:c.70_71del	NP_001420.2:p.Ser24GlyfsTer14
XM_006724165.2:c.70_71del	XP_006724228.1:p.Ser24GlyfsTer14
NM_001362843.1:c.70_71del	NP_001349772.1:p.Ser24GlyfsTer14
NM_001429.4:c.70_71del MANE Select	NP_001420.2:p.Ser24GlyfsTer14
NM_001362843.2:c.70_71del	NP_001349772.1:p.Ser24GlyfsTer14