Canonical Allele Identifier: CA2656906789

Gene: EP300

Linked Data

• gnomAD v4: 22-41147773-TTCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147777_41147780del , CM000684.2:g.41147777_41147780del	GRCh38
NC_000022.10:g.41543781_41543784del , CM000684.1:g.41543781_41543784del	GRCh37
NC_000022.9:g.39873727_39873730del	NCBI36
NG_009817.1:g.60168_60171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*52-60_*52-57del	ENSP00000515365.1:n.*52-60_*52-57del
ENST00000703545.1:c.1922-60_1922-57del
ENST00000263253.9:c.2132-60_2132-57del MANE Select	ENSP00000263253.7:n.2132-60_2132-57del
ENST00000674155.1:c.2054-60_2054-57del	ENSP00000501078.1:n.2054-60_2054-57del
ENST00000263253.8:c.2132-60_2132-57del	ENSP00000263253.7:n.2132-60_2132-57del
ENST00000634728.1:c.176-60_176-57del	ENSP00000488981.1:n.176-60_176-57del
ENST00000635538.1:n.265-60_265-57del
NM_001429.3:c.2132-60_2132-57del	NP_001420.2:n.2132-60_2132-57del
XM_006724165.2:c.2054-60_2054-57del	XP_006724228.1:n.2054-60_2054-57del
NM_001362843.1:c.2054-60_2054-57del	NP_001349772.1:n.2054-60_2054-57del
NM_001429.4:c.2132-60_2132-57del MANE Select	NP_001420.2:n.2132-60_2132-57del
NM_001362843.2:c.2054-60_2054-57del	NP_001349772.1:n.2054-60_2054-57del