Canonical Allele Identifier: CA645294126
Gene: EP300 HGNC NCBI

Linked Data

ClinVar Variation Id: 426320
ClinVar RCV Id: RCV000489152
dbSNP Id: rs1085307564
MyVariant Identifiers: chr22:g.41573286_41573293del (hg19) chr22:g.41177282_41177289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41177282_41177289del , CM000684.2:g.41177282_41177289del GRCh38
NC_000022.10:g.41573286_41573293del , CM000684.1:g.41573286_41573293del GRCh37
NC_000022.9:g.39903232_39903239del NCBI36
NG_009817.1:g.89673_89680del

Transcript Alleles

HGVS Amino-acid change
ENST00000263253.9:c.5571_5578del MANE Select ENSP00000263253.7:p.Gly1860AlafsTer20
ENST00000674155.1:c.5493_5500del ENSP00000501078.1:p.Gly1834AlafsTer20
ENST00000263253.8:c.5571_5578del ENSP00000263253.7:p.Gly1860AlafsTer20
NM_001429.3:c.5571_5578del NP_001420.2:p.Gly1860AlafsTer20
XM_006724165.2:c.5493_5500del XP_006724228.1:p.Gly1834AlafsTer20
NM_001362843.1:c.5493_5500del NP_001349772.1:p.Gly1834AlafsTer20
NM_001429.4:c.5571_5578del MANE Select NP_001420.2:p.Gly1860AlafsTer20
NM_001362843.2:c.5493_5500del NP_001349772.1:p.Gly1834AlafsTer20
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