Canonical Allele Identifier: CA276962

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 210789
• ClinVar RCV Id: RCV000192380
• dbSNP Id: rs797045502
• MyVariant Identifiers: chr16:g.3860751_3860752dupAA (hg19) ; chr16:g.3860750_3860751insAA (hg19) ; chr16:g.3810750_3810751dupAA (hg38) ; chr16:g.3810749_3810750insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810751_3810752dup , CM000678.2:g.3810751_3810752dup	GRCh38
NC_000016.9:g.3860752_3860753dup , CM000678.1:g.3860752_3860753dup	GRCh37
NC_000016.8:g.3800753_3800754dup	NCBI36
NG_009873.1:g.74370_74371dup
NG_009873.2:g.74963_74964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.827_828dup MANE Select	ENSP00000262367.5:p.Gly277LeufsTer18
ENST00000635899.1:n.69_70dup
ENST00000262367.9:c.827_828dup	ENSP00000262367.5:p.Gly277LeufsTer18
ENST00000382070.7:c.827_828dup	ENSP00000371502.3:p.Gly277LeufsTer18
NM_001079846.1:c.827_828dup	NP_001073315.1:p.Gly277LeufsTer18
NM_004380.2:c.827_828dup	NP_004371.2:p.Gly277LeufsTer18
XM_005255124.3:c.827_828dup	XP_005255181.1:p.Gly277LeufsTer18
XM_005255125.3:c.827_828dup	XP_005255182.1:p.Gly277LeufsTer18
XM_006720848.2:c.827_828dup	XP_006720911.1:p.Gly277LeufsTer18
XM_011522380.1:c.773_774dup	XP_011520682.1:p.Gly259LeufsTer18
XM_011522381.1:c.74_75dup	XP_011520683.1:p.Gly26LeufsTer18
XM_011522382.1:c.827_828dup	XP_011520684.1:p.Gly277LeufsTer18
XM_005255124.4:c.827_828dup	XP_005255181.1:p.Gly277LeufsTer18
XM_005255125.4:c.827_828dup	XP_005255182.1:p.Gly277LeufsTer18
XM_006720848.3:c.827_828dup	XP_006720911.1:p.Gly277LeufsTer18
XM_011522381.2:c.74_75dup	XP_011520683.1:p.Gly26LeufsTer18
XM_011522382.3:c.827_828dup	XP_011520684.1:p.Gly277LeufsTer18
XM_017022944.1:c.827_828dup	XP_016878433.1:p.Gly277LeufsTer18
NM_004380.3:c.827_828dup MANE Select	NP_004371.2:p.Gly277LeufsTer18