Canonical Allele Identifier: CA2202936449

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736581_3736582delinsGA , CM000678.2:g.3736581_3736582delinsGA	GRCh38
NC_000016.9:g.3786582_3786583delinsGA , CM000678.1:g.3786582_3786583delinsGA	GRCh37
NC_000016.8:g.3726583_3726584delinsGA	NCBI36
NG_009873.1:g.148539_148540delinsTC
NG_009873.2:g.149132_149133delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+68_4560+69delinsTC MANE Select	ENSP00000262367.5:n.4560+68_4560+69delinsTC
ENST00000262367.9:c.4560+68_4560+69delinsTC	ENSP00000262367.5:n.4560+68_4560+69delinsTC
ENST00000382070.7:c.4446+68_4446+69delinsTC	ENSP00000371502.3:n.4446+68_4446+69delinsTC
ENST00000570939.2:c.3195+68_3195+69delinsTC	ENSP00000461002.2:n.3195+68_3195+69delinsTC
ENST00000571763.5:n.350+68_350+69delinsTC
ENST00000574740.1:n.449_450delinsTC
ENST00000576720.1:n.3383+68_3383+69delinsTC
NM_001079846.1:c.4446+68_4446+69delinsTC	NP_001073315.1:n.4446+68_4446+69delinsTC
NM_004380.2:c.4560+68_4560+69delinsTC	NP_004371.2:n.4560+68_4560+69delinsTC
XM_005255124.3:c.4515+68_4515+69delinsTC	XP_005255181.1:n.4515+68_4515+69delinsTC
XM_005255125.3:c.4143+68_4143+69delinsTC	XP_005255182.1:n.4143+68_4143+69delinsTC
XM_006720848.2:c.4299+68_4299+69delinsTC	XP_006720911.1:n.4299+68_4299+69delinsTC
XM_011522380.1:c.4506+68_4506+69delinsTC	XP_011520682.1:n.4506+68_4506+69delinsTC
XM_011522381.1:c.3807+68_3807+69delinsTC	XP_011520683.1:n.3807+68_3807+69delinsTC
XM_005255124.4:c.4515+68_4515+69delinsTC	XP_005255181.1:n.4515+68_4515+69delinsTC
XM_005255125.4:c.4143+68_4143+69delinsTC	XP_005255182.1:n.4143+68_4143+69delinsTC
XM_006720848.3:c.4299+68_4299+69delinsTC	XP_006720911.1:n.4299+68_4299+69delinsTC
XM_011522381.2:c.3807+68_3807+69delinsTC	XP_011520683.1:n.3807+68_3807+69delinsTC
XM_017022944.1:c.4554+68_4554+69delinsTC	XP_016878433.1:n.4554+68_4554+69delinsTC
NM_004380.3:c.4560+68_4560+69delinsTC MANE Select	NP_004371.2:n.4560+68_4560+69delinsTC