Canonical Allele Identifier: CA2841701432

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770789dup , CM000678.2:g.3770789dup	GRCh38
NC_000016.9:g.3820790dup , CM000678.1:g.3820790dup	GRCh37
NC_000016.8:g.3760791dup	NCBI36
NG_009873.1:g.114332dup
NG_009873.2:g.114925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2661dup MANE Select	ENSP00000262367.5:p.Pro888AlafsTer?
ENST00000262367.9:c.2661dup	ENSP00000262367.5:p.Pro888AlafsTer?
ENST00000382070.7:c.2547dup	ENSP00000371502.3:p.Pro850AlafsTer?
ENST00000570939.2:c.1266dup	ENSP00000461002.2:p.Pro423AlafsTer?
NM_001079846.1:c.2547dup	NP_001073315.1:p.Pro850AlafsTer?
NM_004380.2:c.2661dup	NP_004371.2:p.Pro888AlafsTer?
XM_005255124.3:c.2616dup	XP_005255181.1:p.Pro873AlafsTer?
XM_005255125.3:c.2464-1436dup	XP_005255182.1:n.2464-1436dup
XM_006720848.2:c.2661dup	XP_006720911.1:p.Pro888AlafsTer?
XM_011522380.1:c.2607dup	XP_011520682.1:p.Pro870AlafsTer?
XM_011522381.1:c.1908dup	XP_011520683.1:p.Pro637AlafsTer?
XM_011522382.1:c.2661dup	XP_011520684.1:p.Pro888AlafsTer?
XM_005255124.4:c.2616dup	XP_005255181.1:p.Pro873AlafsTer?
XM_005255125.4:c.2464-1436dup	XP_005255182.1:n.2464-1436dup
XM_006720848.3:c.2661dup	XP_006720911.1:p.Pro888AlafsTer?
XM_011522381.2:c.1908dup	XP_011520683.1:p.Pro637AlafsTer?
XM_011522382.3:c.2661dup	XP_011520684.1:p.Pro888AlafsTer?
XM_017022944.1:c.2655dup	XP_016878433.1:p.Pro886AlafsTer?
NM_004380.3:c.2661dup MANE Select	NP_004371.2:p.Pro888AlafsTer?