Canonical Allele Identifier: CA658793992
Gene: EP300 HGNC NCBI

Linked Data

PubMed: PMID:28135719
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41147864_41147870del , CM000684.2:g.41147864_41147870del GRCh38
NC_000022.10:g.41543868_41543874del , CM000684.1:g.41543868_41543874del GRCh37
NC_000022.9:g.39873814_39873820del NCBI36
NG_009817.1:g.60255_60261del

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*79_*85del ENSP00000515365.1:n.*79_*85del
ENST00000703545.1:c.1949_1955del
ENST00000263253.9:c.2159_2165del MANE Select ENSP00000263253.7:p.Met720SerfsTer?
ENST00000674155.1:c.2081_2087del ENSP00000501078.1:p.Met694SerfsTer?
ENST00000263253.8:c.2159_2165del ENSP00000263253.7:p.Met720SerfsTer?
ENST00000634728.1:c.203_209del ENSP00000488981.1:p.Met68SerfsTer?
ENST00000635538.1:n.292_298del
NM_001429.3:c.2159_2165del NP_001420.2:p.Met720SerfsTer?
XM_006724165.2:c.2081_2087del XP_006724228.1:p.Met694SerfsTer?
NM_001362843.1:c.2081_2087del NP_001349772.1:p.Met694SerfsTer?
NM_001429.4:c.2159_2165del MANE Select NP_001420.2:p.Met720SerfsTer?
NM_001362843.2:c.2081_2087del NP_001349772.1:p.Met694SerfsTer?
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