Canonical Allele Identifier: CA2695222671

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757873dup , CM000678.2:g.3757873dup	GRCh38
NC_000016.9:g.3807874dup , CM000678.1:g.3807874dup	GRCh37
NC_000016.8:g.3747875dup	NCBI36
NG_009873.1:g.127248dup
NG_009873.2:g.127841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3545dup MANE Select	ENSP00000262367.5:p.Glu1183ArgfsTer4
ENST00000262367.9:c.3545dup	ENSP00000262367.5:p.Glu1183ArgfsTer4
ENST00000382070.7:c.3431dup	ENSP00000371502.3:p.Glu1145ArgfsTer4
ENST00000570939.2:c.2150dup	ENSP00000461002.2:p.Glu718ArgfsTer4
NM_001079846.1:c.3431dup	NP_001073315.1:p.Glu1145ArgfsTer4
NM_004380.2:c.3545dup	NP_004371.2:p.Glu1183ArgfsTer4
XM_005255124.3:c.3500dup	XP_005255181.1:p.Glu1168ArgfsTer4
XM_005255125.3:c.3128dup	XP_005255182.1:p.Glu1044ArgfsTer4
XM_006720848.2:c.3545dup	XP_006720911.1:p.Glu1183ArgfsTer4
XM_011522380.1:c.3491dup	XP_011520682.1:p.Glu1165ArgfsTer4
XM_011522381.1:c.2792dup	XP_011520683.1:p.Glu932ArgfsTer4
XM_011522382.1:c.3545dup	XP_011520684.1:p.Glu1183ArgfsTer4
XM_005255124.4:c.3500dup	XP_005255181.1:p.Glu1168ArgfsTer4
XM_005255125.4:c.3128dup	XP_005255182.1:p.Glu1044ArgfsTer4
XM_006720848.3:c.3545dup	XP_006720911.1:p.Glu1183ArgfsTer4
XM_011522381.2:c.2792dup	XP_011520683.1:p.Glu932ArgfsTer4
XM_011522382.3:c.3545dup	XP_011520684.1:p.Glu1183ArgfsTer4
XM_017022944.1:c.3539dup	XP_016878433.1:p.Glu1181ArgfsTer4
NM_004380.3:c.3545dup MANE Select	NP_004371.2:p.Glu1183ArgfsTer4