Canonical Allele Identifier: CA2838382231

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770751del , CM000678.2:g.3770751del	GRCh38
NC_000016.9:g.3820752del , CM000678.1:g.3820752del	GRCh37
NC_000016.8:g.3760753del	NCBI36
NG_009873.1:g.114373del
NG_009873.2:g.114966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2702del MANE Select	ENSP00000262367.5:p.Pro901ArgfsTer26
ENST00000262367.9:c.2702del	ENSP00000262367.5:p.Pro901ArgfsTer26
ENST00000382070.7:c.2588del	ENSP00000371502.3:p.Pro863ArgfsTer26
ENST00000570939.2:c.1307del	ENSP00000461002.2:p.Pro436ArgfsTer26
NM_001079846.1:c.2588del	NP_001073315.1:p.Pro863ArgfsTer26
NM_004380.2:c.2702del	NP_004371.2:p.Pro901ArgfsTer26
XM_005255124.3:c.2657del	XP_005255181.1:p.Pro886ArgfsTer26
XM_005255125.3:c.2464-1395del	XP_005255182.1:n.2464-1395del
XM_006720848.2:c.2702del	XP_006720911.1:p.Pro901ArgfsTer26
XM_011522380.1:c.2648del	XP_011520682.1:p.Pro883ArgfsTer26
XM_011522381.1:c.1949del	XP_011520683.1:p.Pro650ArgfsTer26
XM_011522382.1:c.2702del	XP_011520684.1:p.Pro901ArgfsTer26
XM_005255124.4:c.2657del	XP_005255181.1:p.Pro886ArgfsTer26
XM_005255125.4:c.2464-1395del	XP_005255182.1:n.2464-1395del
XM_006720848.3:c.2702del	XP_006720911.1:p.Pro901ArgfsTer26
XM_011522381.2:c.1949del	XP_011520683.1:p.Pro650ArgfsTer26
XM_011522382.3:c.2702del	XP_011520684.1:p.Pro901ArgfsTer26
XM_017022944.1:c.2696del	XP_016878433.1:p.Pro899ArgfsTer26
NM_004380.3:c.2702del MANE Select	NP_004371.2:p.Pro901ArgfsTer26