Canonical Allele Identifier: CA1139664468

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 988495
• ClinVar RCV Id: RCV001269880
• dbSNP Id: rs2051832768

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729016dup , CM000678.2:g.3729016dup	GRCh38
NC_000016.9:g.3779017dup , CM000678.1:g.3779017dup	GRCh37
NC_000016.8:g.3719018dup	NCBI36
NG_009873.1:g.156107dup
NG_009873.2:g.156700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6033dup MANE Select	ENSP00000262367.5:p.Val2012ArgfsTer?
ENST00000262367.9:c.6033dup	ENSP00000262367.5:p.Val2012ArgfsTer?
ENST00000382070.7:c.5919dup	ENSP00000371502.3:p.Val1974ArgfsTer?
NM_001079846.1:c.5919dup	NP_001073315.1:p.Val1974ArgfsTer?
NM_004380.2:c.6033dup	NP_004371.2:p.Val2012ArgfsTer?
XM_005255124.3:c.5988dup	XP_005255181.1:p.Val1997ArgfsTer?
XM_005255125.3:c.5616dup	XP_005255182.1:p.Val1873ArgfsTer?
XM_006720848.2:c.5772dup	XP_006720911.1:p.Val1925ArgfsTer?
XM_011522380.1:c.5979dup	XP_011520682.1:p.Val1994ArgfsTer?
XM_011522381.1:c.5280dup	XP_011520683.1:p.Val1761ArgfsTer?
XM_005255124.4:c.5988dup	XP_005255181.1:p.Val1997ArgfsTer?
XM_005255125.4:c.5616dup	XP_005255182.1:p.Val1873ArgfsTer?
XM_006720848.3:c.5772dup	XP_006720911.1:p.Val1925ArgfsTer?
XM_011522381.2:c.5280dup	XP_011520683.1:p.Val1761ArgfsTer?
XM_017022944.1:c.6027dup	XP_016878433.1:p.Val2010ArgfsTer?
NM_004380.3:c.6033dup MANE Select	NP_004371.2:p.Val2012ArgfsTer?