Canonical Allele Identifier: CA3044590987

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41151997_41152004delinsAGAGGATG , CM000684.2:g.41151997_41152004delinsAGAGGATG	GRCh38
NC_000022.10:g.41548001_41548008delinsAGAGGATG , CM000684.1:g.41548001_41548008delinsAGAGGATG	GRCh37
NC_000022.9:g.39877947_39877954delinsAGAGGATG	NCBI36
NG_009817.1:g.64388_64395delinsAGAGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*902_*909delinsAGAGGATG	ENSP00000515365.1:n.*902_*909delinsAGAGGATG
ENST00000703545.1:c.2772_2779delinsAGAGGATG
ENST00000263253.9:c.2982_2989delinsAGAGGATG MANE Select	ENSP00000263253.7:p.Ile997Val
ENST00000674155.1:c.2904_2911delinsAGAGGATG	ENSP00000501078.1:p.Ile971Val
ENST00000263253.8:c.2982_2989delinsAGAGGATG	ENSP00000263253.7:p.Ile997Val
NM_001429.3:c.2982_2989delinsAGAGGATG	NP_001420.2:p.Ile997Val
XM_006724165.2:c.2904_2911delinsAGAGGATG	XP_006724228.1:p.Ile971Val
NM_001362843.1:c.2904_2911delinsAGAGGATG	NP_001349772.1:p.Ile971Val
NM_001429.4:c.2982_2989delinsAGAGGATG MANE Select	NP_001420.2:p.Ile997Val
NM_001362843.2:c.2904_2911delinsAGAGGATG	NP_001349772.1:p.Ile971Val