Canonical Allele Identifier: CA2202936360

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736491_3736492delinsGA , CM000678.2:g.3736491_3736492delinsGA	GRCh38
NC_000016.9:g.3786492_3786493delinsGA , CM000678.1:g.3786492_3786493delinsGA	GRCh37
NC_000016.8:g.3726493_3726494delinsGA	NCBI36
NG_009873.1:g.148629_148630delinsTC
NG_009873.2:g.149222_149223delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+158_4560+159delinsTC MANE Select	ENSP00000262367.5:n.4560+158_4560+159delinsTC
ENST00000262367.9:c.4560+158_4560+159delinsTC	ENSP00000262367.5:n.4560+158_4560+159delinsTC
ENST00000382070.7:c.4446+158_4446+159delinsTC	ENSP00000371502.3:n.4446+158_4446+159delinsTC
ENST00000570939.2:c.3195+158_3195+159delinsTC	ENSP00000461002.2:n.3195+158_3195+159delinsTC
ENST00000571763.5:n.350+158_350+159delinsTC
ENST00000576720.1:n.3383+158_3383+159delinsTC
NM_001079846.1:c.4446+158_4446+159delinsTC	NP_001073315.1:n.4446+158_4446+159delinsTC
NM_004380.2:c.4560+158_4560+159delinsTC	NP_004371.2:n.4560+158_4560+159delinsTC
XM_005255124.3:c.4515+158_4515+159delinsTC	XP_005255181.1:n.4515+158_4515+159delinsTC
XM_005255125.3:c.4143+158_4143+159delinsTC	XP_005255182.1:n.4143+158_4143+159delinsTC
XM_006720848.2:c.4299+158_4299+159delinsTC	XP_006720911.1:n.4299+158_4299+159delinsTC
XM_011522380.1:c.4506+158_4506+159delinsTC	XP_011520682.1:n.4506+158_4506+159delinsTC
XM_011522381.1:c.3807+158_3807+159delinsTC	XP_011520683.1:n.3807+158_3807+159delinsTC
XM_005255124.4:c.4515+158_4515+159delinsTC	XP_005255181.1:n.4515+158_4515+159delinsTC
XM_005255125.4:c.4143+158_4143+159delinsTC	XP_005255182.1:n.4143+158_4143+159delinsTC
XM_006720848.3:c.4299+158_4299+159delinsTC	XP_006720911.1:n.4299+158_4299+159delinsTC
XM_011522381.2:c.3807+158_3807+159delinsTC	XP_011520683.1:n.3807+158_3807+159delinsTC
XM_017022944.1:c.4554+158_4554+159delinsTC	XP_016878433.1:n.4554+158_4554+159delinsTC
NM_004380.3:c.4560+158_4560+159delinsTC MANE Select	NP_004371.2:n.4560+158_4560+159delinsTC