Canonical Allele Identifier: CA2805633490

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3746088_3746100del , CM000678.2:g.3746088_3746100del	GRCh38
NC_000016.9:g.3796089_3796101del , CM000678.1:g.3796089_3796101del	GRCh37
NC_000016.8:g.3736090_3736102del	NCBI36
NG_009873.1:g.139021_139033del
NG_009873.2:g.139614_139626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3837-746_3837-734del MANE Select	ENSP00000262367.5:n.3837-746_3837-734del
ENST00000638158.1:n.58-505_58-493del
ENST00000262367.9:c.3837-746_3837-734del	ENSP00000262367.5:n.3837-746_3837-734del
ENST00000382070.7:c.3723-746_3723-734del	ENSP00000371502.3:n.3723-746_3723-734del
ENST00000570939.2:c.2472-746_2472-734del	ENSP00000461002.2:n.2472-746_2472-734del
ENST00000573517.6:c.143-746_143-734del
NM_001079846.1:c.3723-746_3723-734del	NP_001073315.1:n.3723-746_3723-734del
NM_004380.2:c.3837-746_3837-734del	NP_004371.2:n.3837-746_3837-734del
XM_005255124.3:c.3792-746_3792-734del	XP_005255181.1:n.3792-746_3792-734del
XM_005255125.3:c.3420-746_3420-734del	XP_005255182.1:n.3420-746_3420-734del
XM_006720848.2:c.3837-746_3837-734del	XP_006720911.1:n.3837-746_3837-734del
XM_011522380.1:c.3783-746_3783-734del	XP_011520682.1:n.3783-746_3783-734del
XM_011522381.1:c.3084-746_3084-734del	XP_011520683.1:n.3084-746_3084-734del
XM_011522382.1:c.3837-505_3837-493del	XP_011520684.1:n.3837-505_3837-493del
XM_005255124.4:c.3792-746_3792-734del	XP_005255181.1:n.3792-746_3792-734del
XM_005255125.4:c.3420-746_3420-734del	XP_005255182.1:n.3420-746_3420-734del
XM_006720848.3:c.3837-746_3837-734del	XP_006720911.1:n.3837-746_3837-734del
XM_011522381.2:c.3084-746_3084-734del	XP_011520683.1:n.3084-746_3084-734del
XM_011522382.3:c.3837-505_3837-493del	XP_011520684.1:n.3837-505_3837-493del
XM_017022944.1:c.3831-746_3831-734del	XP_016878433.1:n.3831-746_3831-734del
NM_004380.3:c.3837-746_3837-734del MANE Select	NP_004371.2:n.3837-746_3837-734del