Canonical Allele Identifier: CA10253887

Gene: EP300

Linked Data

• ClinVar Variation Id: 225898
• ClinVar RCV Id: RCV000211093 ; RCV003937797 ; RCV004546459
• dbSNP Id: rs875989807
• ExAC: 22:41574281 TGCAACAGCAGCA / T
• gnomAD v2: 22-41574281-TGCAACAGCAGCA-T
• gnomAD v3: 22-41178277-TGCAACAGCAGCA-T
• gnomAD v4: 22-41178277-TGCAACAGCAGCA-T
• COSMIC: COSM88787
• MyVariant Identifiers: chr22:g.41574289_41574300del (hg19) ; chr22:g.41574282_41574293del (hg19) ; chr22:g.41178285_41178296del (hg38) ; chr22:g.41178278_41178289del (hg38)
• PubMed: PMID:27159028

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41178285_41178296del , CM000684.2:g.41178285_41178296del	GRCh38
NC_000022.10:g.41574289_41574300del , CM000684.1:g.41574289_41574300del	GRCh37
NC_000022.9:g.39904235_39904246del	NCBI36
NG_009817.1:g.90676_90687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263253.9:c.6574_6585del MANE Select	ENSP00000263253.7:p.Gln2192_Gln2195del
ENST00000674155.1:c.6496_6507del	ENSP00000501078.1:p.Gln2166_Gln2169del
ENST00000263253.8:c.6574_6585del	ENSP00000263253.7:p.Gln2192_Gln2195del
NM_001429.3:c.6574_6585del	NP_001420.2:p.Gln2192_Gln2195del
XM_006724165.2:c.6496_6507del	XP_006724228.1:p.Gln2166_Gln2169del
NM_001362843.1:c.6496_6507del	NP_001349772.1:p.Gln2166_Gln2169del
NM_001429.4:c.6574_6585del MANE Select	NP_001420.2:p.Gln2192_Gln2195del
NM_001362843.2:c.6496_6507del	NP_001349772.1:p.Gln2166_Gln2169del