Canonical Allele Identifier: CA915949072

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694822
• ClinVar RCV Id: RCV000856915
• dbSNP Id: rs1596805807

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736751_3736752insA , CM000678.2:g.3736751_3736752insA	GRCh38
NC_000016.9:g.3786752_3786753insA , CM000678.1:g.3786752_3786753insA	GRCh37
NC_000016.8:g.3726753_3726754insA	NCBI36
NG_009873.1:g.148369_148370insT
NG_009873.2:g.148962_148963insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4458_4459insT MANE Select	ENSP00000262367.5:p.His1487SerfsTer4
ENST00000262367.9:c.4458_4459insT	ENSP00000262367.5:p.His1487SerfsTer4
ENST00000382070.7:c.4344_4345insT	ENSP00000371502.3:p.His1449SerfsTer4
ENST00000570939.2:c.3093_3094insT	ENSP00000461002.2:p.His1032SerfsTer4
ENST00000571763.5:n.248_249insT
ENST00000574740.1:n.279_280insT
ENST00000576720.1:n.3281_3282insT
NM_001079846.1:c.4344_4345insT	NP_001073315.1:p.His1449SerfsTer4
NM_004380.2:c.4458_4459insT	NP_004371.2:p.His1487SerfsTer4
XM_005255124.3:c.4413_4414insT	XP_005255181.1:p.His1472SerfsTer4
XM_005255125.3:c.4041_4042insT	XP_005255182.1:p.His1348SerfsTer4
XM_006720848.2:c.4197_4198insT	XP_006720911.1:p.His1400SerfsTer4
XM_011522380.1:c.4404_4405insT	XP_011520682.1:p.His1469SerfsTer4
XM_011522381.1:c.3705_3706insT	XP_011520683.1:p.His1236SerfsTer4
XM_005255124.4:c.4413_4414insT	XP_005255181.1:p.His1472SerfsTer4
XM_005255125.4:c.4041_4042insT	XP_005255182.1:p.His1348SerfsTer4
XM_006720848.3:c.4197_4198insT	XP_006720911.1:p.His1400SerfsTer4
XM_011522381.2:c.3705_3706insT	XP_011520683.1:p.His1236SerfsTer4
XM_017022944.1:c.4452_4453insT	XP_016878433.1:p.His1485SerfsTer4
NM_004380.3:c.4458_4459insT MANE Select	NP_004371.2:p.His1487SerfsTer4