Canonical Allele Identifier: CA645509366

Gene: EP300

Linked Data

• ClinVar Variation Id: 438292
• ClinVar RCV Id: RCV000505193
• dbSNP Id: rs1555910602
• MyVariant Identifiers: chr22:g.41560062_41560064del (hg19) ; chr22:g.41164058_41164060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41164058_41164060del , CM000684.2:g.41164058_41164060del	GRCh38
NC_000022.10:g.41560062_41560064del , CM000684.1:g.41560062_41560064del	GRCh37
NC_000022.9:g.39890008_39890010del	NCBI36
NG_009817.1:g.76449_76451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1654_*1656del	ENSP00000515365.1:n.*1654_*1656del
ENST00000263253.9:c.3734_3736del MANE Select	ENSP00000263253.7:p.Val1245del
ENST00000674155.1:c.3656_3658del	ENSP00000501078.1:p.Val1219del
ENST00000263253.8:c.3734_3736del	ENSP00000263253.7:p.Val1245del
ENST00000635584.1:n.59_61del
NM_001429.3:c.3734_3736del	NP_001420.2:p.Val1245del
XM_006724165.2:c.3656_3658del	XP_006724228.1:p.Val1219del
NM_001362843.1:c.3656_3658del	NP_001349772.1:p.Val1219del
NM_001429.4:c.3734_3736del MANE Select	NP_001420.2:p.Val1245del
NM_001362843.2:c.3656_3658del	NP_001349772.1:p.Val1219del