Canonical Allele Identifier: CA2731837511

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151297962

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727754del , CM000678.2:g.3727754del	GRCh38
NC_000016.9:g.3777755del , CM000678.1:g.3777755del	GRCh37
NC_000016.8:g.3717756del	NCBI36
NG_009873.1:g.157371del
NG_009873.2:g.157964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7297del MANE Select	ENSP00000262367.5:p.Asp2433ThrfsTer3
ENST00000262367.9:c.7297del	ENSP00000262367.5:p.Asp2433ThrfsTer3
ENST00000382070.7:c.7183del	ENSP00000371502.3:p.Asp2395ThrfsTer3
NM_001079846.1:c.7183del	NP_001073315.1:p.Asp2395ThrfsTer3
NM_004380.2:c.7297del	NP_004371.2:p.Asp2433ThrfsTer3
XM_005255124.3:c.7252del	XP_005255181.1:p.Asp2418ThrfsTer3
XM_005255125.3:c.6880del	XP_005255182.1:p.Asp2294ThrfsTer3
XM_006720848.2:c.7036del	XP_006720911.1:p.Asp2346ThrfsTer3
XM_011522380.1:c.7243del	XP_011520682.1:p.Asp2415ThrfsTer3
XM_011522381.1:c.6544del	XP_011520683.1:p.Asp2182ThrfsTer3
XM_005255124.4:c.7252del	XP_005255181.1:p.Asp2418ThrfsTer3
XM_005255125.4:c.6880del	XP_005255182.1:p.Asp2294ThrfsTer3
XM_006720848.3:c.7036del	XP_006720911.1:p.Asp2346ThrfsTer3
XM_011522381.2:c.6544del	XP_011520683.1:p.Asp2182ThrfsTer3
XM_017022944.1:c.7291del	XP_016878433.1:p.Asp2431ThrfsTer3
NM_004380.3:c.7297del MANE Select	NP_004371.2:p.Asp2433ThrfsTer3