Canonical Allele Identifier: CA10604948

Gene: EP300

Linked Data

• ClinVar Variation Id: 284914
• ClinVar RCV Id: RCV000597508
• dbSNP Id: rs886042977
• MyVariant Identifiers: chr22:g.41556731_41556734del (hg19) ; chr22:g.41160727_41160730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160727_41160730del , CM000684.2:g.41160727_41160730del	GRCh38
NC_000022.10:g.41556731_41556734del , CM000684.1:g.41556731_41556734del	GRCh37
NC_000022.9:g.39886677_39886680del	NCBI36
NG_009817.1:g.73118_73121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1591+5_*1591+8del	ENSP00000515365.1:n.*1591+5_*1591+8del
ENST00000263253.9:c.3671+5_3671+8del MANE Select	ENSP00000263253.7:n.3671+5_3671+8del
ENST00000674155.1:c.3593+5_3593+8del	ENSP00000501078.1:n.3593+5_3593+8del
ENST00000263253.8:c.3671+5_3671+8del	ENSP00000263253.7:n.3671+5_3671+8del
NM_001429.3:c.3671+5_3671+8del	NP_001420.2:n.3671+5_3671+8del
XM_006724165.2:c.3593+5_3593+8del	XP_006724228.1:n.3593+5_3593+8del
NM_001362843.1:c.3593+5_3593+8del	NP_001349772.1:n.3593+5_3593+8del
NM_001429.4:c.3671+5_3671+8del MANE Select	NP_001420.2:n.3671+5_3671+8del
NM_001362843.2:c.3593+5_3593+8del	NP_001349772.1:n.3593+5_3593+8del