Canonical Allele Identifier: CA2840860807

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729019del , CM000678.2:g.3729019del	GRCh38
NC_000016.9:g.3779020del , CM000678.1:g.3779020del	GRCh37
NC_000016.8:g.3719021del	NCBI36
NG_009873.1:g.156104del
NG_009873.2:g.156697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6030del MANE Select	ENSP00000262367.5:p.Val2012SerfsTer28
ENST00000262367.9:c.6030del	ENSP00000262367.5:p.Val2012SerfsTer28
ENST00000382070.7:c.5916del	ENSP00000371502.3:p.Val1974SerfsTer28
NM_001079846.1:c.5916del	NP_001073315.1:p.Val1974SerfsTer28
NM_004380.2:c.6030del	NP_004371.2:p.Val2012SerfsTer28
XM_005255124.3:c.5985del	XP_005255181.1:p.Val1997SerfsTer28
XM_005255125.3:c.5613del	XP_005255182.1:p.Val1873SerfsTer28
XM_006720848.2:c.5769del	XP_006720911.1:p.Val1925SerfsTer28
XM_011522380.1:c.5976del	XP_011520682.1:p.Val1994SerfsTer28
XM_011522381.1:c.5277del	XP_011520683.1:p.Val1761SerfsTer28
XM_005255124.4:c.5985del	XP_005255181.1:p.Val1997SerfsTer28
XM_005255125.4:c.5613del	XP_005255182.1:p.Val1873SerfsTer28
XM_006720848.3:c.5769del	XP_006720911.1:p.Val1925SerfsTer28
XM_011522381.2:c.5277del	XP_011520683.1:p.Val1761SerfsTer28
XM_017022944.1:c.6024del	XP_016878433.1:p.Val2010SerfsTer28
NM_004380.3:c.6030del MANE Select	NP_004371.2:p.Val2012SerfsTer28