Canonical Allele Identifier: CA2805632986

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728791_3728792dup , CM000678.2:g.3728791_3728792dup	GRCh38
NC_000016.9:g.3778792_3778793dup , CM000678.1:g.3778792_3778793dup	GRCh37
NC_000016.8:g.3718793_3718794dup	NCBI36
NG_009873.1:g.156329_156330dup
NG_009873.2:g.156922_156923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6255_6256dup MANE Select	ENSP00000262367.5:p.Val2086GlyfsTer3
ENST00000262367.9:c.6255_6256dup	ENSP00000262367.5:p.Val2086GlyfsTer3
ENST00000382070.7:c.6141_6142dup	ENSP00000371502.3:p.Val2048GlyfsTer3
NM_001079846.1:c.6141_6142dup	NP_001073315.1:p.Val2048GlyfsTer3
NM_004380.2:c.6255_6256dup	NP_004371.2:p.Val2086GlyfsTer3
XM_005255124.3:c.6210_6211dup	XP_005255181.1:p.Val2071GlyfsTer3
XM_005255125.3:c.5838_5839dup	XP_005255182.1:p.Val1947GlyfsTer3
XM_006720848.2:c.5994_5995dup	XP_006720911.1:p.Val1999GlyfsTer3
XM_011522380.1:c.6201_6202dup	XP_011520682.1:p.Val2068GlyfsTer3
XM_011522381.1:c.5502_5503dup	XP_011520683.1:p.Val1835GlyfsTer3
XM_005255124.4:c.6210_6211dup	XP_005255181.1:p.Val2071GlyfsTer3
XM_005255125.4:c.5838_5839dup	XP_005255182.1:p.Val1947GlyfsTer3
XM_006720848.3:c.5994_5995dup	XP_006720911.1:p.Val1999GlyfsTer3
XM_011522381.2:c.5502_5503dup	XP_011520683.1:p.Val1835GlyfsTer3
XM_017022944.1:c.6249_6250dup	XP_016878433.1:p.Val2084GlyfsTer3
NM_004380.3:c.6255_6256dup MANE Select	NP_004371.2:p.Val2086GlyfsTer3