Canonical Allele Identifier: CA915949066

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694832
• ClinVar RCV Id: RCV000856926
• dbSNP Id: rs1596786219

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729203dup , CM000678.2:g.3729203dup	GRCh38
NC_000016.9:g.3779204dup , CM000678.1:g.3779204dup	GRCh37
NC_000016.8:g.3719205dup	NCBI36
NG_009873.1:g.155919dup
NG_009873.2:g.156512dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.5845dup MANE Select	ENSP00000262367.5:p.Ala1949GlyfsTer17
ENST00000262367.9:c.5845dup	ENSP00000262367.5:p.Ala1949GlyfsTer17
ENST00000382070.7:c.5731dup	ENSP00000371502.3:p.Ala1911GlyfsTer17
NM_001079846.1:c.5731dup	NP_001073315.1:p.Ala1911GlyfsTer17
NM_004380.2:c.5845dup	NP_004371.2:p.Ala1949GlyfsTer17
XM_005255124.3:c.5800dup	XP_005255181.1:p.Ala1934GlyfsTer17
XM_005255125.3:c.5428dup	XP_005255182.1:p.Ala1810GlyfsTer17
XM_006720848.2:c.5584dup	XP_006720911.1:p.Ala1862GlyfsTer17
XM_011522380.1:c.5791dup	XP_011520682.1:p.Ala1931GlyfsTer17
XM_011522381.1:c.5092dup	XP_011520683.1:p.Ala1698GlyfsTer17
XM_005255124.4:c.5800dup	XP_005255181.1:p.Ala1934GlyfsTer17
XM_005255125.4:c.5428dup	XP_005255182.1:p.Ala1810GlyfsTer17
XM_006720848.3:c.5584dup	XP_006720911.1:p.Ala1862GlyfsTer17
XM_011522381.2:c.5092dup	XP_011520683.1:p.Ala1698GlyfsTer17
XM_017022944.1:c.5839dup	XP_016878433.1:p.Ala1947GlyfsTer17
NM_004380.3:c.5845dup MANE Select	NP_004371.2:p.Ala1949GlyfsTer17