Canonical Allele Identifier: CA2805633495

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3746115_3746116insGTGTGGAGGTA , CM000678.2:g.3746115_3746116insGTGTGGAGGTA	GRCh38
NC_000016.9:g.3796116_3796117insGTGTGGAGGTA , CM000678.1:g.3796116_3796117insGTGTGGAGGTA	GRCh37
NC_000016.8:g.3736117_3736118insGTGTGGAGGTA	NCBI36
NG_009873.1:g.139005_139006insTACCTCCACAC
NG_009873.2:g.139598_139599insTACCTCCACAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3837-762_3837-761insTACCTCCACAC MANE Select	ENSP00000262367.5:n.3837-762_3837-761insTACCTCCACAC
ENST00000638158.1:n.58-521_58-520insTACCTCCACAC
ENST00000262367.9:c.3837-762_3837-761insTACCTCCACAC	ENSP00000262367.5:n.3837-762_3837-761insTACCTCCACAC
ENST00000382070.7:c.3723-762_3723-761insTACCTCCACAC	ENSP00000371502.3:n.3723-762_3723-761insTACCTCCACAC
ENST00000570939.2:c.2472-762_2472-761insTACCTCCACAC	ENSP00000461002.2:n.2472-762_2472-761insTACCTCCACAC
ENST00000573517.6:c.143-762_143-761insTACCTCCACAC
NM_001079846.1:c.3723-762_3723-761insTACCTCCACAC	NP_001073315.1:n.3723-762_3723-761insTACCTCCACAC
NM_004380.2:c.3837-762_3837-761insTACCTCCACAC	NP_004371.2:n.3837-762_3837-761insTACCTCCACAC
XM_005255124.3:c.3792-762_3792-761insTACCTCCACAC	XP_005255181.1:n.3792-762_3792-761insTACCTCCACAC
XM_005255125.3:c.3420-762_3420-761insTACCTCCACAC	XP_005255182.1:n.3420-762_3420-761insTACCTCCACAC
XM_006720848.2:c.3837-762_3837-761insTACCTCCACAC	XP_006720911.1:n.3837-762_3837-761insTACCTCCACAC
XM_011522380.1:c.3783-762_3783-761insTACCTCCACAC	XP_011520682.1:n.3783-762_3783-761insTACCTCCACAC
XM_011522381.1:c.3084-762_3084-761insTACCTCCACAC	XP_011520683.1:n.3084-762_3084-761insTACCTCCACAC
XM_011522382.1:c.3837-521_3837-520insTACCTCCACAC	XP_011520684.1:n.3837-521_3837-520insTACCTCCACAC
XM_005255124.4:c.3792-762_3792-761insTACCTCCACAC	XP_005255181.1:n.3792-762_3792-761insTACCTCCACAC
XM_005255125.4:c.3420-762_3420-761insTACCTCCACAC	XP_005255182.1:n.3420-762_3420-761insTACCTCCACAC
XM_006720848.3:c.3837-762_3837-761insTACCTCCACAC	XP_006720911.1:n.3837-762_3837-761insTACCTCCACAC
XM_011522381.2:c.3084-762_3084-761insTACCTCCACAC	XP_011520683.1:n.3084-762_3084-761insTACCTCCACAC
XM_011522382.3:c.3837-521_3837-520insTACCTCCACAC	XP_011520684.1:n.3837-521_3837-520insTACCTCCACAC
XM_017022944.1:c.3831-762_3831-761insTACCTCCACAC	XP_016878433.1:n.3831-762_3831-761insTACCTCCACAC
NM_004380.3:c.3837-762_3837-761insTACCTCCACAC MANE Select	NP_004371.2:n.3837-762_3837-761insTACCTCCACAC