Canonical Allele Identifier: CA2695222629

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736730dup , CM000678.2:g.3736730dup	GRCh38
NC_000016.9:g.3786731dup , CM000678.1:g.3786731dup	GRCh37
NC_000016.8:g.3726732dup	NCBI36
NG_009873.1:g.148393dup
NG_009873.2:g.148986dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4482dup MANE Select	ENSP00000262367.5:p.Lys1495GlnfsTer24
ENST00000262367.9:c.4482dup	ENSP00000262367.5:p.Lys1495GlnfsTer24
ENST00000382070.7:c.4368dup	ENSP00000371502.3:p.Lys1457GlnfsTer24
ENST00000570939.2:c.3117dup	ENSP00000461002.2:p.Lys1040GlnfsTer24
ENST00000571763.5:n.272dup
ENST00000574740.1:n.303dup
ENST00000576720.1:n.3305dup
NM_001079846.1:c.4368dup	NP_001073315.1:p.Lys1457GlnfsTer24
NM_004380.2:c.4482dup	NP_004371.2:p.Lys1495GlnfsTer24
XM_005255124.3:c.4437dup	XP_005255181.1:p.Lys1480GlnfsTer24
XM_005255125.3:c.4065dup	XP_005255182.1:p.Lys1356GlnfsTer24
XM_006720848.2:c.4221dup	XP_006720911.1:p.Lys1408GlnfsTer24
XM_011522380.1:c.4428dup	XP_011520682.1:p.Lys1477GlnfsTer24
XM_011522381.1:c.3729dup	XP_011520683.1:p.Lys1244GlnfsTer24
XM_005255124.4:c.4437dup	XP_005255181.1:p.Lys1480GlnfsTer24
XM_005255125.4:c.4065dup	XP_005255182.1:p.Lys1356GlnfsTer24
XM_006720848.3:c.4221dup	XP_006720911.1:p.Lys1408GlnfsTer24
XM_011522381.2:c.3729dup	XP_011520683.1:p.Lys1244GlnfsTer24
XM_017022944.1:c.4476dup	XP_016878433.1:p.Lys1493GlnfsTer24
NM_004380.3:c.4482dup MANE Select	NP_004371.2:p.Lys1495GlnfsTer24