Canonical Allele Identifier: CA2202958454

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777860_3777861delinsGA , CM000678.2:g.3777860_3777861delinsGA	GRCh38
NC_000016.9:g.3827861_3827862delinsGA , CM000678.1:g.3827861_3827862delinsGA	GRCh37
NC_000016.8:g.3767862_3767863delinsGA	NCBI36
NG_009873.1:g.107260_107261delinsTC
NG_009873.2:g.107853_107854delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+150_2113+151delinsTC MANE Select	ENSP00000262367.5:n.2113+150_2113+151delinsTC
ENST00000262367.9:c.2113+150_2113+151delinsTC	ENSP00000262367.5:n.2113+150_2113+151delinsTC
ENST00000382070.7:c.1999+150_1999+151delinsTC	ENSP00000371502.3:n.1999+150_1999+151delinsTC
ENST00000570939.2:c.718+150_718+151delinsTC	ENSP00000461002.2:n.718+150_718+151delinsTC
ENST00000571826.5:c.162+150_162+151delinsTC
ENST00000572134.1:c.426+150_426+151delinsTC
NM_001079846.1:c.1999+150_1999+151delinsTC	NP_001073315.1:n.1999+150_1999+151delinsTC
NM_004380.2:c.2113+150_2113+151delinsTC	NP_004371.2:n.2113+150_2113+151delinsTC
XM_005255124.3:c.2113+150_2113+151delinsTC	XP_005255181.1:n.2113+150_2113+151delinsTC
XM_005255125.3:c.2113+150_2113+151delinsTC	XP_005255182.1:n.2113+150_2113+151delinsTC
XM_006720848.2:c.2113+150_2113+151delinsTC	XP_006720911.1:n.2113+150_2113+151delinsTC
XM_011522380.1:c.2059+150_2059+151delinsTC	XP_011520682.1:n.2059+150_2059+151delinsTC
XM_011522381.1:c.1360+150_1360+151delinsTC	XP_011520683.1:n.1360+150_1360+151delinsTC
XM_011522382.1:c.2113+150_2113+151delinsTC	XP_011520684.1:n.2113+150_2113+151delinsTC
XM_005255124.4:c.2113+150_2113+151delinsTC	XP_005255181.1:n.2113+150_2113+151delinsTC
XM_005255125.4:c.2113+150_2113+151delinsTC	XP_005255182.1:n.2113+150_2113+151delinsTC
XM_006720848.3:c.2113+150_2113+151delinsTC	XP_006720911.1:n.2113+150_2113+151delinsTC
XM_011522381.2:c.1360+150_1360+151delinsTC	XP_011520683.1:n.1360+150_1360+151delinsTC
XM_011522382.3:c.2113+150_2113+151delinsTC	XP_011520684.1:n.2113+150_2113+151delinsTC
XM_017022944.1:c.2113+150_2113+151delinsTC	XP_016878433.1:n.2113+150_2113+151delinsTC
NM_004380.3:c.2113+150_2113+151delinsTC MANE Select	NP_004371.2:n.2113+150_2113+151delinsTC