Canonical Allele Identifier: CA2580612710

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2506656
• ClinVar RCV Id: RCV003237025

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728662_3728679dup , CM000678.2:g.3728662_3728679dup	GRCh38
NC_000016.9:g.3778663_3778680dup , CM000678.1:g.3778663_3778680dup	GRCh37
NC_000016.8:g.3718664_3718681dup	NCBI36
NG_009873.1:g.156449_156466dup
NG_009873.2:g.157042_157059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6375_6392dup MANE Select	ENSP00000262367.5:p.Pro2131_Gly2132insGlyMetGlnProGlnPro
ENST00000262367.9:c.6375_6392dup	ENSP00000262367.5:p.Pro2131_Gly2132insGlyMetGlnProGlnPro
ENST00000382070.7:c.6261_6278dup	ENSP00000371502.3:p.Pro2093_Gly2094insGlyMetGlnProGlnPro
NM_001079846.1:c.6261_6278dup	NP_001073315.1:p.Pro2093_Gly2094insGlyMetGlnProGlnPro
NM_004380.2:c.6375_6392dup	NP_004371.2:p.Pro2131_Gly2132insGlyMetGlnProGlnPro
XM_005255124.3:c.6330_6347dup	XP_005255181.1:p.Pro2116_Gly2117insGlyMetGlnProGlnPro
XM_005255125.3:c.5958_5975dup	XP_005255182.1:p.Pro1992_Gly1993insGlyMetGlnProGlnPro
XM_006720848.2:c.6114_6131dup	XP_006720911.1:p.Pro2044_Gly2045insGlyMetGlnProGlnPro
XM_011522380.1:c.6321_6338dup	XP_011520682.1:p.Pro2113_Gly2114insGlyMetGlnProGlnPro
XM_011522381.1:c.5622_5639dup	XP_011520683.1:p.Pro1880_Gly1881insGlyMetGlnProGlnPro
XM_005255124.4:c.6330_6347dup	XP_005255181.1:p.Pro2116_Gly2117insGlyMetGlnProGlnPro
XM_005255125.4:c.5958_5975dup	XP_005255182.1:p.Pro1992_Gly1993insGlyMetGlnProGlnPro
XM_006720848.3:c.6114_6131dup	XP_006720911.1:p.Pro2044_Gly2045insGlyMetGlnProGlnPro
XM_011522381.2:c.5622_5639dup	XP_011520683.1:p.Pro1880_Gly1881insGlyMetGlnProGlnPro
XM_017022944.1:c.6369_6386dup	XP_016878433.1:p.Pro2129_Gly2130insGlyMetGlnProGlnPro
NM_004380.3:c.6375_6392dup MANE Select	NP_004371.2:p.Pro2131_Gly2132insGlyMetGlnProGlnPro