Canonical Allele Identifier: CA2825002417

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3236710
• ClinVar RCV Id: RCV004556166

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728937del , CM000678.2:g.3728937del	GRCh38
NC_000016.9:g.3778938del , CM000678.1:g.3778938del	GRCh37
NC_000016.8:g.3718939del	NCBI36
NG_009873.1:g.156185del
NG_009873.2:g.156778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6111del MANE Select	ENSP00000262367.5:p.Arg2037SerfsTer3
ENST00000262367.9:c.6111del	ENSP00000262367.5:p.Arg2037SerfsTer3
ENST00000382070.7:c.5997del	ENSP00000371502.3:p.Arg1999SerfsTer3
NM_001079846.1:c.5997del	NP_001073315.1:p.Arg1999SerfsTer3
NM_004380.2:c.6111del	NP_004371.2:p.Arg2037SerfsTer3
XM_005255124.3:c.6066del	XP_005255181.1:p.Arg2022SerfsTer3
XM_005255125.3:c.5694del	XP_005255182.1:p.Arg1898SerfsTer3
XM_006720848.2:c.5850del	XP_006720911.1:p.Arg1950SerfsTer3
XM_011522380.1:c.6057del	XP_011520682.1:p.Arg2019SerfsTer3
XM_011522381.1:c.5358del	XP_011520683.1:p.Arg1786SerfsTer3
XM_005255124.4:c.6066del	XP_005255181.1:p.Arg2022SerfsTer3
XM_005255125.4:c.5694del	XP_005255182.1:p.Arg1898SerfsTer3
XM_006720848.3:c.5850del	XP_006720911.1:p.Arg1950SerfsTer3
XM_011522381.2:c.5358del	XP_011520683.1:p.Arg1786SerfsTer3
XM_017022944.1:c.6105del	XP_016878433.1:p.Arg2035SerfsTer3
NM_004380.3:c.6111del MANE Select	NP_004371.2:p.Arg2037SerfsTer3