Canonical Allele Identifier: CA2695222766

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778068dup , CM000678.2:g.3778068dup	GRCh38
NC_000016.9:g.3828069dup , CM000678.1:g.3828069dup	GRCh37
NC_000016.8:g.3768070dup	NCBI36
NG_009873.1:g.107054dup
NG_009873.2:g.107647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2057dup MANE Select	ENSP00000262367.5:p.Ala687SerfsTer?
ENST00000262367.9:c.2057dup	ENSP00000262367.5:p.Ala687SerfsTer?
ENST00000382070.7:c.1943dup	ENSP00000371502.3:p.Ala649SerfsTer?
ENST00000570939.2:c.662dup	ENSP00000461002.2:p.Ala222SerfsTer?
ENST00000571826.5:c.106dup
ENST00000572134.1:c.370dup
ENST00000634839.1:n.219dup
NM_001079846.1:c.1943dup	NP_001073315.1:p.Ala649SerfsTer?
NM_004380.2:c.2057dup	NP_004371.2:p.Ala687SerfsTer?
XM_005255124.3:c.2057dup	XP_005255181.1:p.Ala687SerfsTer24
XM_005255125.3:c.2057dup	XP_005255182.1:p.Ala687SerfsTer?
XM_006720848.2:c.2057dup	XP_006720911.1:p.Ala687SerfsTer?
XM_011522380.1:c.2003dup	XP_011520682.1:p.Ala669SerfsTer?
XM_011522381.1:c.1304dup	XP_011520683.1:p.Ala436SerfsTer?
XM_011522382.1:c.2057dup	XP_011520684.1:p.Ala687SerfsTer?
XM_005255124.4:c.2057dup	XP_005255181.1:p.Ala687SerfsTer24
XM_005255125.4:c.2057dup	XP_005255182.1:p.Ala687SerfsTer?
XM_006720848.3:c.2057dup	XP_006720911.1:p.Ala687SerfsTer?
XM_011522381.2:c.1304dup	XP_011520683.1:p.Ala436SerfsTer?
XM_011522382.3:c.2057dup	XP_011520684.1:p.Ala687SerfsTer?
XM_017022944.1:c.2057dup	XP_016878433.1:p.Ala687SerfsTer?
NM_004380.3:c.2057dup MANE Select	NP_004371.2:p.Ala687SerfsTer?