Canonical Allele Identifier: CA2832567403

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778060dup , CM000678.2:g.3778060dup	GRCh38
NC_000016.9:g.3828061dup , CM000678.1:g.3828061dup	GRCh37
NC_000016.8:g.3768062dup	NCBI36
NG_009873.1:g.107065dup
NG_009873.2:g.107658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2068dup MANE Select	ENSP00000262367.5:p.Ala690GlyfsTer?
ENST00000262367.9:c.2068dup	ENSP00000262367.5:p.Ala690GlyfsTer?
ENST00000382070.7:c.1954dup	ENSP00000371502.3:p.Ala652GlyfsTer?
ENST00000570939.2:c.673dup	ENSP00000461002.2:p.Ala225GlyfsTer?
ENST00000571826.5:c.117dup
ENST00000572134.1:c.381dup
ENST00000634839.1:n.230dup
NM_001079846.1:c.1954dup	NP_001073315.1:p.Ala652GlyfsTer?
NM_004380.2:c.2068dup	NP_004371.2:p.Ala690GlyfsTer?
XM_005255124.3:c.2068dup	XP_005255181.1:p.Ala690GlyfsTer21
XM_005255125.3:c.2068dup	XP_005255182.1:p.Ala690GlyfsTer?
XM_006720848.2:c.2068dup	XP_006720911.1:p.Ala690GlyfsTer?
XM_011522380.1:c.2014dup	XP_011520682.1:p.Ala672GlyfsTer?
XM_011522381.1:c.1315dup	XP_011520683.1:p.Ala439GlyfsTer?
XM_011522382.1:c.2068dup	XP_011520684.1:p.Ala690GlyfsTer?
XM_005255124.4:c.2068dup	XP_005255181.1:p.Ala690GlyfsTer21
XM_005255125.4:c.2068dup	XP_005255182.1:p.Ala690GlyfsTer?
XM_006720848.3:c.2068dup	XP_006720911.1:p.Ala690GlyfsTer?
XM_011522381.2:c.1315dup	XP_011520683.1:p.Ala439GlyfsTer?
XM_011522382.3:c.2068dup	XP_011520684.1:p.Ala690GlyfsTer?
XM_017022944.1:c.2068dup	XP_016878433.1:p.Ala690GlyfsTer?
NM_004380.3:c.2068dup MANE Select	NP_004371.2:p.Ala690GlyfsTer?