Canonical Allele Identifier: CA2202958506

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053182547

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777892_3777918del , CM000678.2:g.3777892_3777918del	GRCh38
NC_000016.9:g.3827893_3827919del , CM000678.1:g.3827893_3827919del	GRCh37
NC_000016.8:g.3767894_3767920del	NCBI36
NG_009873.1:g.107204_107230del
NG_009873.2:g.107797_107823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+94_2113+120del MANE Select	ENSP00000262367.5:n.2113+94_2113+120del
ENST00000262367.9:c.2113+94_2113+120del	ENSP00000262367.5:n.2113+94_2113+120del
ENST00000382070.7:c.1999+94_1999+120del	ENSP00000371502.3:n.1999+94_1999+120del
ENST00000570939.2:c.718+94_718+120del	ENSP00000461002.2:n.718+94_718+120del
ENST00000571826.5:c.162+94_162+120del
ENST00000572134.1:c.426+94_426+120del
NM_001079846.1:c.1999+94_1999+120del	NP_001073315.1:n.1999+94_1999+120del
NM_004380.2:c.2113+94_2113+120del	NP_004371.2:n.2113+94_2113+120del
XM_005255124.3:c.2113+94_2113+120del	XP_005255181.1:n.2113+94_2113+120del
XM_005255125.3:c.2113+94_2113+120del	XP_005255182.1:n.2113+94_2113+120del
XM_006720848.2:c.2113+94_2113+120del	XP_006720911.1:n.2113+94_2113+120del
XM_011522380.1:c.2059+94_2059+120del	XP_011520682.1:n.2059+94_2059+120del
XM_011522381.1:c.1360+94_1360+120del	XP_011520683.1:n.1360+94_1360+120del
XM_011522382.1:c.2113+94_2113+120del	XP_011520684.1:n.2113+94_2113+120del
XM_005255124.4:c.2113+94_2113+120del	XP_005255181.1:n.2113+94_2113+120del
XM_005255125.4:c.2113+94_2113+120del	XP_005255182.1:n.2113+94_2113+120del
XM_006720848.3:c.2113+94_2113+120del	XP_006720911.1:n.2113+94_2113+120del
XM_011522381.2:c.1360+94_1360+120del	XP_011520683.1:n.1360+94_1360+120del
XM_011522382.3:c.2113+94_2113+120del	XP_011520684.1:n.2113+94_2113+120del
XM_017022944.1:c.2113+94_2113+120del	XP_016878433.1:n.2113+94_2113+120del
NM_004380.3:c.2113+94_2113+120del MANE Select	NP_004371.2:n.2113+94_2113+120del