Canonical Allele Identifier: CA2406101744

Gene: EP300

Linked Data

• dbSNP Id: rs1783479862

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147646_41147680del , CM000684.2:g.41147646_41147680del	GRCh38
NC_000022.10:g.41543650_41543684del , CM000684.1:g.41543650_41543684del	GRCh37
NC_000022.9:g.39873596_39873630del	NCBI36
NG_009817.1:g.60037_60071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*52-191_*52-157del	ENSP00000515365.1:n.*52-191_*52-157del
ENST00000703545.1:c.1922-191_1922-157del
ENST00000263253.9:c.2132-191_2132-157del MANE Select	ENSP00000263253.7:n.2132-191_2132-157del
ENST00000674155.1:c.2054-191_2054-157del	ENSP00000501078.1:n.2054-191_2054-157del
ENST00000263253.8:c.2132-191_2132-157del	ENSP00000263253.7:n.2132-191_2132-157del
ENST00000634728.1:c.176-191_176-157del	ENSP00000488981.1:n.176-191_176-157del
ENST00000635538.1:n.265-191_265-157del
NM_001429.3:c.2132-191_2132-157del	NP_001420.2:n.2132-191_2132-157del
XM_006724165.2:c.2054-191_2054-157del	XP_006724228.1:n.2054-191_2054-157del
NM_001362843.1:c.2054-191_2054-157del	NP_001349772.1:n.2054-191_2054-157del
NM_001429.4:c.2132-191_2132-157del MANE Select	NP_001420.2:n.2132-191_2132-157del
NM_001362843.2:c.2054-191_2054-157del	NP_001349772.1:n.2054-191_2054-157del