Canonical Allele Identifier: CA10575640

Gene: EP300

Linked Data

• ClinVar Variation Id: 137620
• ClinVar RCV Id: RCV000125469 ; RCV001175122 ; RCV002273956 ; RCV002477332
• dbSNP Id: rs886037664
• MyVariant Identifiers: chr22:g.41513200_41513203del (hg19) ; chr22:g.41117196_41117199del (hg38)
• PubMed: PMID:24352918 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41117196_41117199del , CM000684.2:g.41117196_41117199del	GRCh38
NC_000022.10:g.41513200_41513203del , CM000684.1:g.41513200_41513203del	GRCh37
NC_000022.9:g.39843146_39843149del	NCBI36
NG_009817.1:g.29587_29590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.104_107del	ENSP00000515365.1:p.Ser35TyrfsTer12
ENST00000263253.9:c.104_107del MANE Select	ENSP00000263253.7:p.Ser35TyrfsTer12
ENST00000637592.1:n.84_87del
ENST00000674155.1:c.104_107del	ENSP00000501078.1:p.Ser35TyrfsTer12
ENST00000263253.8:c.104_107del	ENSP00000263253.7:p.Ser35TyrfsTer12
NM_001429.3:c.104_107del	NP_001420.2:p.Ser35TyrfsTer12
XM_006724165.2:c.104_107del	XP_006724228.1:p.Ser35TyrfsTer12
NM_001362843.1:c.104_107del	NP_001349772.1:p.Ser35TyrfsTer12
NM_001429.4:c.104_107del MANE Select	NP_001420.2:p.Ser35TyrfsTer12
NM_001362843.2:c.104_107del	NP_001349772.1:p.Ser35TyrfsTer12