Canonical Allele Identifier: CA277265

Gene: EP300

Linked Data

• ClinVar Variation Id: 210940
• ClinVar RCV Id: RCV000194142
• dbSNP Id: rs797045559
• MyVariant Identifiers: chr22:g.41572307dupT (hg19) ; chr22:g.41176303dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41176303dup , CM000684.2:g.41176303dup	GRCh38
NC_000022.10:g.41572307dup , CM000684.1:g.41572307dup	GRCh37
NC_000022.9:g.39902253dup	NCBI36
NG_009817.1:g.88694dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*2756dup	ENSP00000515365.1:n.*2756dup
ENST00000263253.9:c.4836dup MANE Select	ENSP00000263253.7:p.Val1613CysfsTer2
ENST00000674155.1:c.4758dup	ENSP00000501078.1:p.Val1587CysfsTer2
ENST00000263253.8:c.4836dup	ENSP00000263253.7:p.Val1613CysfsTer2
ENST00000635083.1:n.245dup
NM_001429.3:c.4836dup	NP_001420.2:p.Val1613CysfsTer2
XM_006724165.2:c.4758dup	XP_006724228.1:p.Val1587CysfsTer2
NM_001362843.1:c.4758dup	NP_001349772.1:p.Val1587CysfsTer2
NM_001429.4:c.4836dup MANE Select	NP_001420.2:p.Val1613CysfsTer2
NM_001362843.2:c.4758dup	NP_001349772.1:p.Val1587CysfsTer2