Canonical Allele Identifier: CA2202958580

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777970_3777971delinsGA , CM000678.2:g.3777970_3777971delinsGA	GRCh38
NC_000016.9:g.3827971_3827972delinsGA , CM000678.1:g.3827971_3827972delinsGA	GRCh37
NC_000016.8:g.3767972_3767973delinsGA	NCBI36
NG_009873.1:g.107150_107151delinsTC
NG_009873.2:g.107743_107744delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+40_2113+41delinsTC MANE Select	ENSP00000262367.5:n.2113+40_2113+41delinsTC
ENST00000262367.9:c.2113+40_2113+41delinsTC	ENSP00000262367.5:n.2113+40_2113+41delinsTC
ENST00000382070.7:c.1999+40_1999+41delinsTC	ENSP00000371502.3:n.1999+40_1999+41delinsTC
ENST00000570939.2:c.718+40_718+41delinsTC	ENSP00000461002.2:n.718+40_718+41delinsTC
ENST00000571826.5:c.162+40_162+41delinsTC
ENST00000572134.1:c.426+40_426+41delinsTC
ENST00000634839.1:n.315_316delinsTC
NM_001079846.1:c.1999+40_1999+41delinsTC	NP_001073315.1:n.1999+40_1999+41delinsTC
NM_004380.2:c.2113+40_2113+41delinsTC	NP_004371.2:n.2113+40_2113+41delinsTC
XM_005255124.3:c.2113+40_2113+41delinsTC	XP_005255181.1:n.2113+40_2113+41delinsTC
XM_005255125.3:c.2113+40_2113+41delinsTC	XP_005255182.1:n.2113+40_2113+41delinsTC
XM_006720848.2:c.2113+40_2113+41delinsTC	XP_006720911.1:n.2113+40_2113+41delinsTC
XM_011522380.1:c.2059+40_2059+41delinsTC	XP_011520682.1:n.2059+40_2059+41delinsTC
XM_011522381.1:c.1360+40_1360+41delinsTC	XP_011520683.1:n.1360+40_1360+41delinsTC
XM_011522382.1:c.2113+40_2113+41delinsTC	XP_011520684.1:n.2113+40_2113+41delinsTC
XM_005255124.4:c.2113+40_2113+41delinsTC	XP_005255181.1:n.2113+40_2113+41delinsTC
XM_005255125.4:c.2113+40_2113+41delinsTC	XP_005255182.1:n.2113+40_2113+41delinsTC
XM_006720848.3:c.2113+40_2113+41delinsTC	XP_006720911.1:n.2113+40_2113+41delinsTC
XM_011522381.2:c.1360+40_1360+41delinsTC	XP_011520683.1:n.1360+40_1360+41delinsTC
XM_011522382.3:c.2113+40_2113+41delinsTC	XP_011520684.1:n.2113+40_2113+41delinsTC
XM_017022944.1:c.2113+40_2113+41delinsTC	XP_016878433.1:n.2113+40_2113+41delinsTC
NM_004380.3:c.2113+40_2113+41delinsTC MANE Select	NP_004371.2:n.2113+40_2113+41delinsTC