Canonical Allele Identifier: CA2202971822

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810620_3810623delinsTGAC , CM000678.2:g.3810620_3810623delinsTGAC	GRCh38
NC_000016.9:g.3860621_3860624delinsTGAC , CM000678.1:g.3860621_3860624delinsTGAC	GRCh37
NC_000016.8:g.3800622_3800625delinsTGAC	NCBI36
NG_009873.1:g.74498_74501delinsGTCA
NG_009873.2:g.75091_75094delinsGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.955_958delinsGTCA MANE Select	ENSP00000262367.5:p.Val319=
ENST00000262367.9:c.955_958delinsGTCA	ENSP00000262367.5:p.Val319=
ENST00000382070.7:c.955_958delinsGTCA	ENSP00000371502.3:p.Val319=
NM_001079846.1:c.955_958delinsGTCA	NP_001073315.1:p.Val319=
NM_004380.2:c.955_958delinsGTCA	NP_004371.2:p.Val319=
XM_005255124.3:c.955_958delinsGTCA	XP_005255181.1:p.Val319=
XM_005255125.3:c.955_958delinsGTCA	XP_005255182.1:p.Val319=
XM_006720848.2:c.955_958delinsGTCA	XP_006720911.1:p.Val319=
XM_011522380.1:c.901_904delinsGTCA	XP_011520682.1:p.Val301=
XM_011522381.1:c.202_205delinsGTCA	XP_011520683.1:p.Val68=
XM_011522382.1:c.955_958delinsGTCA	XP_011520684.1:p.Val319=
XM_005255124.4:c.955_958delinsGTCA	XP_005255181.1:p.Val319=
XM_005255125.4:c.955_958delinsGTCA	XP_005255182.1:p.Val319=
XM_006720848.3:c.955_958delinsGTCA	XP_006720911.1:p.Val319=
XM_011522381.2:c.202_205delinsGTCA	XP_011520683.1:p.Val68=
XM_011522382.3:c.955_958delinsGTCA	XP_011520684.1:p.Val319=
XM_017022944.1:c.955_958delinsGTCA	XP_016878433.1:p.Val319=
NM_004380.3:c.955_958delinsGTCA MANE Select	NP_004371.2:p.Val319=