Canonical Allele Identifier: CA2202916284

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729202_3729213delinsCCGGGGGTGGGG , CM000678.2:g.3729202_3729213delinsCCGGGGGTGGGG	GRCh38
NC_000016.9:g.3779203_3779214delinsCCGGGGGTGGGG , CM000678.1:g.3779203_3779214delinsCCGGGGGTGGGG	GRCh37
NC_000016.8:g.3719204_3719215delinsCCGGGGGTGGGG	NCBI36
NG_009873.1:g.155908_155919delinsCCCCACCCCCGG
NG_009873.2:g.156501_156512delinsCCCCACCCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5834_5845delinsCCCCACCCCCGG MANE Select	ENSP00000262367.5:p.Pro1945=
ENST00000262367.9:c.5834_5845delinsCCCCACCCCCGG	ENSP00000262367.5:p.Pro1945=
ENST00000382070.7:c.5720_5731delinsCCCCACCCCCGG	ENSP00000371502.3:p.Pro1907=
NM_001079846.1:c.5720_5731delinsCCCCACCCCCGG	NP_001073315.1:p.Pro1907=
NM_004380.2:c.5834_5845delinsCCCCACCCCCGG	NP_004371.2:p.Pro1945=
XM_005255124.3:c.5789_5800delinsCCCCACCCCCGG	XP_005255181.1:p.Pro1930=
XM_005255125.3:c.5417_5428delinsCCCCACCCCCGG	XP_005255182.1:p.Pro1806=
XM_006720848.2:c.5573_5584delinsCCCCACCCCCGG	XP_006720911.1:p.Pro1858=
XM_011522380.1:c.5780_5791delinsCCCCACCCCCGG	XP_011520682.1:p.Pro1927=
XM_011522381.1:c.5081_5092delinsCCCCACCCCCGG	XP_011520683.1:p.Pro1694=
XM_005255124.4:c.5789_5800delinsCCCCACCCCCGG	XP_005255181.1:p.Pro1930=
XM_005255125.4:c.5417_5428delinsCCCCACCCCCGG	XP_005255182.1:p.Pro1806=
XM_006720848.3:c.5573_5584delinsCCCCACCCCCGG	XP_006720911.1:p.Pro1858=
XM_011522381.2:c.5081_5092delinsCCCCACCCCCGG	XP_011520683.1:p.Pro1694=
XM_017022944.1:c.5828_5839delinsCCCCACCCCCGG	XP_016878433.1:p.Pro1943=
NM_004380.3:c.5834_5845delinsCCCCACCCCCGG MANE Select	NP_004371.2:p.Pro1945=