Canonical Allele Identifier: CA2202953720

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792079_3792086delinsGATGCACA , CM000678.2:g.3792079_3792086delinsGATGCACA	GRCh38
NC_000016.9:g.3842080_3842087delinsGATGCACA , CM000678.1:g.3842080_3842087delinsGATGCACA	GRCh37
NC_000016.8:g.3782081_3782088delinsGATGCACA	NCBI36
NG_009873.1:g.93035_93042delinsTGTGCATC
NG_009873.2:g.93628_93635delinsTGTGCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1225_1232delinsTGTGCATC MANE Select	ENSP00000262367.5:p.Cys409=
ENST00000262367.9:c.1225_1232delinsTGTGCATC	ENSP00000262367.5:p.Cys409=
ENST00000382070.7:c.1216+1300_1216+1307delinsTGTGCATC	ENSP00000371502.3:n.1216+1300_1216+1307delinsTGTGCATC
NM_001079846.1:c.1216+1300_1216+1307delinsTGTGCATC	NP_001073315.1:n.1216+1300_1216+1307delinsTGTGCATC
NM_004380.2:c.1225_1232delinsTGTGCATC	NP_004371.2:p.Cys409=
XM_005255124.3:c.1225_1232delinsTGTGCATC	XP_005255181.1:p.Cys409=
XM_005255125.3:c.1225_1232delinsTGTGCATC	XP_005255182.1:p.Cys409=
XM_006720848.2:c.1225_1232delinsTGTGCATC	XP_006720911.1:p.Cys409=
XM_011522380.1:c.1171_1178delinsTGTGCATC	XP_011520682.1:p.Cys391=
XM_011522381.1:c.472_479delinsTGTGCATC	XP_011520683.1:p.Cys158=
XM_011522382.1:c.1225_1232delinsTGTGCATC	XP_011520684.1:p.Cys409=
XM_005255124.4:c.1225_1232delinsTGTGCATC	XP_005255181.1:p.Cys409=
XM_005255125.4:c.1225_1232delinsTGTGCATC	XP_005255182.1:p.Cys409=
XM_006720848.3:c.1225_1232delinsTGTGCATC	XP_006720911.1:p.Cys409=
XM_011522381.2:c.472_479delinsTGTGCATC	XP_011520683.1:p.Cys158=
XM_011522382.3:c.1225_1232delinsTGTGCATC	XP_011520684.1:p.Cys409=
XM_017022944.1:c.1225_1232delinsTGTGCATC	XP_016878433.1:p.Cys409=
NM_004380.3:c.1225_1232delinsTGTGCATC MANE Select	NP_004371.2:p.Cys409=