Canonical Allele Identifier: CA2202953694

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792059_3792060delinsGA , CM000678.2:g.3792059_3792060delinsGA	GRCh38
NC_000016.9:g.3842060_3842061delinsGA , CM000678.1:g.3842060_3842061delinsGA	GRCh37
NC_000016.8:g.3782061_3782062delinsGA	NCBI36
NG_009873.1:g.93061_93062delinsTC
NG_009873.2:g.93654_93655delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1251_1252delinsTC MANE Select	ENSP00000262367.5:p.Ser417=
ENST00000262367.9:c.1251_1252delinsTC	ENSP00000262367.5:p.Ser417=
ENST00000382070.7:c.1216+1326_1216+1327delinsTC	ENSP00000371502.3:n.1216+1326_1216+1327delinsTC
NM_001079846.1:c.1216+1326_1216+1327delinsTC	NP_001073315.1:n.1216+1326_1216+1327delinsTC
NM_004380.2:c.1251_1252delinsTC	NP_004371.2:p.Ser417=
XM_005255124.3:c.1251_1252delinsTC	XP_005255181.1:p.Ser417=
XM_005255125.3:c.1251_1252delinsTC	XP_005255182.1:p.Ser417=
XM_006720848.2:c.1251_1252delinsTC	XP_006720911.1:p.Ser417=
XM_011522380.1:c.1197_1198delinsTC	XP_011520682.1:p.Ser399=
XM_011522381.1:c.498_499delinsTC	XP_011520683.1:p.Ser166=
XM_011522382.1:c.1251_1252delinsTC	XP_011520684.1:p.Ser417=
XM_005255124.4:c.1251_1252delinsTC	XP_005255181.1:p.Ser417=
XM_005255125.4:c.1251_1252delinsTC	XP_005255182.1:p.Ser417=
XM_006720848.3:c.1251_1252delinsTC	XP_006720911.1:p.Ser417=
XM_011522381.2:c.498_499delinsTC	XP_011520683.1:p.Ser166=
XM_011522382.3:c.1251_1252delinsTC	XP_011520684.1:p.Ser417=
XM_017022944.1:c.1251_1252delinsTC	XP_016878433.1:p.Ser417=
NM_004380.3:c.1251_1252delinsTC MANE Select	NP_004371.2:p.Ser417=