Canonical Allele Identifier: CA2202957994

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777472_3777473delinsAC , CM000678.2:g.3777472_3777473delinsAC	GRCh38
NC_000016.9:g.3827473_3827474delinsAC , CM000678.1:g.3827473_3827474delinsAC	GRCh37
NC_000016.8:g.3767474_3767475delinsAC	NCBI36
NG_009873.1:g.107648_107649delinsGT
NG_009873.2:g.108241_108242delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+140_2158+141delinsGT MANE Select	ENSP00000262367.5:n.2158+140_2158+141delinsGT
ENST00000262367.9:c.2158+140_2158+141delinsGT	ENSP00000262367.5:n.2158+140_2158+141delinsGT
ENST00000382070.7:c.2044+140_2044+141delinsGT	ENSP00000371502.3:n.2044+140_2044+141delinsGT
ENST00000570939.2:c.763+140_763+141delinsGT	ENSP00000461002.2:n.763+140_763+141delinsGT
ENST00000571826.5:c.207+140_207+141delinsGT
ENST00000572134.1:c.426+538_426+539delinsGT
NM_001079846.1:c.2044+140_2044+141delinsGT	NP_001073315.1:n.2044+140_2044+141delinsGT
NM_004380.2:c.2158+140_2158+141delinsGT	NP_004371.2:n.2158+140_2158+141delinsGT
XM_005255124.3:c.2113+538_2113+539delinsGT	XP_005255181.1:n.2113+538_2113+539delinsGT
XM_005255125.3:c.2158+140_2158+141delinsGT	XP_005255182.1:n.2158+140_2158+141delinsGT
XM_006720848.2:c.2158+140_2158+141delinsGT	XP_006720911.1:n.2158+140_2158+141delinsGT
XM_011522380.1:c.2104+140_2104+141delinsGT	XP_011520682.1:n.2104+140_2104+141delinsGT
XM_011522381.1:c.1405+140_1405+141delinsGT	XP_011520683.1:n.1405+140_1405+141delinsGT
XM_011522382.1:c.2158+140_2158+141delinsGT	XP_011520684.1:n.2158+140_2158+141delinsGT
XM_005255124.4:c.2113+538_2113+539delinsGT	XP_005255181.1:n.2113+538_2113+539delinsGT
XM_005255125.4:c.2158+140_2158+141delinsGT	XP_005255182.1:n.2158+140_2158+141delinsGT
XM_006720848.3:c.2158+140_2158+141delinsGT	XP_006720911.1:n.2158+140_2158+141delinsGT
XM_011522381.2:c.1405+140_1405+141delinsGT	XP_011520683.1:n.1405+140_1405+141delinsGT
XM_011522382.3:c.2158+140_2158+141delinsGT	XP_011520684.1:n.2158+140_2158+141delinsGT
XM_017022944.1:c.2158+140_2158+141delinsGT	XP_016878433.1:n.2158+140_2158+141delinsGT
NM_004380.3:c.2158+140_2158+141delinsGT MANE Select	NP_004371.2:n.2158+140_2158+141delinsGT