Canonical Allele Identifier: CA2731708671

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141346625

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810636del , CM000678.2:g.3810636del	GRCh38
NC_000016.9:g.3860637del , CM000678.1:g.3860637del	GRCh37
NC_000016.8:g.3800638del	NCBI36
NG_009873.1:g.74485del
NG_009873.2:g.75078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.942del MANE Select	ENSP00000262367.5:p.Lys315ArgfsTer?
ENST00000262367.9:c.942del	ENSP00000262367.5:p.Lys315ArgfsTer?
ENST00000382070.7:c.942del	ENSP00000371502.3:p.Lys315ArgfsTer?
NM_001079846.1:c.942del	NP_001073315.1:p.Lys315ArgfsTer?
NM_004380.2:c.942del	NP_004371.2:p.Lys315ArgfsTer?
XM_005255124.3:c.942del	XP_005255181.1:p.Lys315ArgfsTer?
XM_005255125.3:c.942del	XP_005255182.1:p.Lys315ArgfsTer?
XM_006720848.2:c.942del	XP_006720911.1:p.Lys315ArgfsTer?
XM_011522380.1:c.888del	XP_011520682.1:p.Lys297ArgfsTer?
XM_011522381.1:c.189del	XP_011520683.1:p.Lys64ArgfsTer?
XM_011522382.1:c.942del	XP_011520684.1:p.Lys315ArgfsTer?
XM_005255124.4:c.942del	XP_005255181.1:p.Lys315ArgfsTer?
XM_005255125.4:c.942del	XP_005255182.1:p.Lys315ArgfsTer?
XM_006720848.3:c.942del	XP_006720911.1:p.Lys315ArgfsTer?
XM_011522381.2:c.189del	XP_011520683.1:p.Lys64ArgfsTer?
XM_011522382.3:c.942del	XP_011520684.1:p.Lys315ArgfsTer?
XM_017022944.1:c.942del	XP_016878433.1:p.Lys315ArgfsTer?
NM_004380.3:c.942del MANE Select	NP_004371.2:p.Lys315ArgfsTer?