Canonical Allele Identifier: CA645575155

Gene: CREBBP

Linked Data

• COSMIC: COSM4518557

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728079_3728080delinsTT , CM000678.2:g.3728079_3728080delinsTT	GRCh38
NC_000016.9:g.3778080_3778081delinsTT , CM000678.1:g.3778080_3778081delinsTT	GRCh37
NC_000016.8:g.3718081_3718082delinsTT	NCBI36
NG_009873.1:g.157041_157042delinsAA
NG_009873.2:g.157634_157635delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6967_6968delinsAA MANE Select	ENSP00000262367.5:p.Gly2323Lys
ENST00000262367.9:c.6967_6968delinsAA	ENSP00000262367.5:p.Gly2323Lys
ENST00000382070.7:c.6853_6854delinsAA	ENSP00000371502.3:p.Gly2285Lys
NM_001079846.1:c.6853_6854delinsAA	NP_001073315.1:p.Gly2285Lys
NM_004380.2:c.6967_6968delinsAA	NP_004371.2:p.Gly2323Lys
XM_005255124.3:c.6922_6923delinsAA	XP_005255181.1:p.Gly2308Lys
XM_005255125.3:c.6550_6551delinsAA	XP_005255182.1:p.Gly2184Lys
XM_006720848.2:c.6706_6707delinsAA	XP_006720911.1:p.Gly2236Lys
XM_011522380.1:c.6913_6914delinsAA	XP_011520682.1:p.Gly2305Lys
XM_011522381.1:c.6214_6215delinsAA	XP_011520683.1:p.Gly2072Lys
XM_005255124.4:c.6922_6923delinsAA	XP_005255181.1:p.Gly2308Lys
XM_005255125.4:c.6550_6551delinsAA	XP_005255182.1:p.Gly2184Lys
XM_006720848.3:c.6706_6707delinsAA	XP_006720911.1:p.Gly2236Lys
XM_011522381.2:c.6214_6215delinsAA	XP_011520683.1:p.Gly2072Lys
XM_017022944.1:c.6961_6962delinsAA	XP_016878433.1:p.Gly2321Lys
NM_004380.3:c.6967_6968delinsAA MANE Select	NP_004371.2:p.Gly2323Lys