Canonical Allele Identifier: CA2695222657

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740442_3740452del , CM000678.2:g.3740442_3740452del	GRCh38
NC_000016.9:g.3790443_3790453del , CM000678.1:g.3790443_3790453del	GRCh37
NC_000016.8:g.3730444_3730454del	NCBI36
NG_009873.1:g.144669_144679del
NG_009873.2:g.145262_145272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4080_4090del MANE Select	ENSP00000262367.5:p.Val1361LeufsTer23
ENST00000262367.9:c.4080_4090del	ENSP00000262367.5:p.Val1361LeufsTer23
ENST00000382070.7:c.3966_3976del	ENSP00000371502.3:p.Val1323LeufsTer23
ENST00000570939.2:c.2715_2725del	ENSP00000461002.2:p.Val906LeufsTer23
ENST00000573517.6:c.386_396del
ENST00000574740.1:n.162_172del
ENST00000576720.1:n.3017_3027del
NM_001079846.1:c.3966_3976del	NP_001073315.1:p.Val1323LeufsTer23
NM_004380.2:c.4080_4090del	NP_004371.2:p.Val1361LeufsTer23
XM_005255124.3:c.4035_4045del	XP_005255181.1:p.Val1346LeufsTer23
XM_005255125.3:c.3663_3673del	XP_005255182.1:p.Val1222LeufsTer23
XM_006720848.2:c.4080_4090del	XP_006720911.1:p.Val1361LeufsTer27
XM_011522380.1:c.4026_4036del	XP_011520682.1:p.Val1343LeufsTer23
XM_011522381.1:c.3327_3337del	XP_011520683.1:p.Val1110LeufsTer23
XM_005255124.4:c.4035_4045del	XP_005255181.1:p.Val1346LeufsTer23
XM_005255125.4:c.3663_3673del	XP_005255182.1:p.Val1222LeufsTer23
XM_006720848.3:c.4080_4090del	XP_006720911.1:p.Val1361LeufsTer27
XM_011522381.2:c.3327_3337del	XP_011520683.1:p.Val1110LeufsTer23
XM_017022944.1:c.4074_4084del	XP_016878433.1:p.Val1359LeufsTer23
NM_004380.3:c.4080_4090del MANE Select	NP_004371.2:p.Val1361LeufsTer23