Canonical Allele Identifier: CA658791853

Gene: CREBBP

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729696_3729701dup , CM000678.2:g.3729696_3729701dup	GRCh38
NC_000016.9:g.3779697_3779702dup , CM000678.1:g.3779697_3779702dup	GRCh37
NC_000016.8:g.3719698_3719703dup	NCBI36
NG_009873.1:g.155425_155430dup
NG_009873.2:g.156018_156023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5351_5356dup MANE Select	ENSP00000262367.5:p.Cys1785_Arg1786insGlnCys
ENST00000262367.9:c.5351_5356dup	ENSP00000262367.5:p.Cys1785_Arg1786insGlnCys
ENST00000382070.7:c.5237_5242dup	ENSP00000371502.3:p.Cys1747_Arg1748insGlnCys
NM_001079846.1:c.5237_5242dup	NP_001073315.1:p.Cys1747_Arg1748insGlnCys
NM_004380.2:c.5351_5356dup	NP_004371.2:p.Cys1785_Arg1786insGlnCys
XM_005255124.3:c.5306_5311dup	XP_005255181.1:p.Cys1770_Arg1771insGlnCys
XM_005255125.3:c.4934_4939dup	XP_005255182.1:p.Cys1646_Arg1647insGlnCys
XM_006720848.2:c.5090_5095dup	XP_006720911.1:p.Cys1698_Arg1699insGlnCys
XM_011522380.1:c.5297_5302dup	XP_011520682.1:p.Cys1767_Arg1768insGlnCys
XM_011522381.1:c.4598_4603dup	XP_011520683.1:p.Cys1534_Arg1535insGlnCys
XM_005255124.4:c.5306_5311dup	XP_005255181.1:p.Cys1770_Arg1771insGlnCys
XM_005255125.4:c.4934_4939dup	XP_005255182.1:p.Cys1646_Arg1647insGlnCys
XM_006720848.3:c.5090_5095dup	XP_006720911.1:p.Cys1698_Arg1699insGlnCys
XM_011522381.2:c.4598_4603dup	XP_011520683.1:p.Cys1534_Arg1535insGlnCys
XM_017022944.1:c.5345_5350dup	XP_016878433.1:p.Cys1783_Arg1784insGlnCys
NM_004380.3:c.5351_5356dup MANE Select	NP_004371.2:p.Cys1785_Arg1786insGlnCys