Canonical Allele Identifier: CA2538872572

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792034_3792035insAATGT , CM000678.2:g.3792034_3792035insAATGT	GRCh38
NC_000016.9:g.3842035_3842036insAATGT , CM000678.1:g.3842035_3842036insAATGT	GRCh37
NC_000016.8:g.3782036_3782037insAATGT	NCBI36
NG_009873.1:g.93088_93089insATTAC
NG_009873.2:g.93681_93682insATTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1278_1279insATTAC MANE Select	ENSP00000262367.5:p.Cys427IlefsTer9
ENST00000262367.9:c.1278_1279insATTAC	ENSP00000262367.5:p.Cys427IlefsTer9
ENST00000382070.7:c.1216+1353_1216+1354insATTAC	ENSP00000371502.3:n.1216+1353_1216+1354insATTAC
NM_001079846.1:c.1216+1353_1216+1354insATTAC	NP_001073315.1:n.1216+1353_1216+1354insATTAC
NM_004380.2:c.1278_1279insATTAC	NP_004371.2:p.Cys427IlefsTer9
XM_005255124.3:c.1278_1279insATTAC	XP_005255181.1:p.Cys427IlefsTer9
XM_005255125.3:c.1278_1279insATTAC	XP_005255182.1:p.Cys427IlefsTer9
XM_006720848.2:c.1278_1279insATTAC	XP_006720911.1:p.Cys427IlefsTer9
XM_011522380.1:c.1224_1225insATTAC	XP_011520682.1:p.Cys409IlefsTer9
XM_011522381.1:c.525_526insATTAC	XP_011520683.1:p.Cys176IlefsTer9
XM_011522382.1:c.1278_1279insATTAC	XP_011520684.1:p.Cys427IlefsTer9
XM_005255124.4:c.1278_1279insATTAC	XP_005255181.1:p.Cys427IlefsTer9
XM_005255125.4:c.1278_1279insATTAC	XP_005255182.1:p.Cys427IlefsTer9
XM_006720848.3:c.1278_1279insATTAC	XP_006720911.1:p.Cys427IlefsTer9
XM_011522381.2:c.525_526insATTAC	XP_011520683.1:p.Cys176IlefsTer9
XM_011522382.3:c.1278_1279insATTAC	XP_011520684.1:p.Cys427IlefsTer9
XM_017022944.1:c.1278_1279insATTAC	XP_016878433.1:p.Cys427IlefsTer9
NM_004380.3:c.1278_1279insATTAC MANE Select	NP_004371.2:p.Cys427IlefsTer9