Canonical Allele Identifier: CA2697549650

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2746879
• ClinVar RCV Id: RCV003593625

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736752_3736753del , CM000678.2:g.3736752_3736753del	GRCh38
NC_000016.9:g.3786753_3786754del , CM000678.1:g.3786753_3786754del	GRCh37
NC_000016.8:g.3726754_3726755del	NCBI36
NG_009873.1:g.148368_148369del
NG_009873.2:g.148961_148962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4457_4458del MANE Select	ENSP00000262367.5:p.Cys1486SerfsTer4
ENST00000262367.9:c.4457_4458del	ENSP00000262367.5:p.Cys1486SerfsTer4
ENST00000382070.7:c.4343_4344del	ENSP00000371502.3:p.Cys1448SerfsTer4
ENST00000570939.2:c.3092_3093del	ENSP00000461002.2:p.Cys1031SerfsTer4
ENST00000571763.5:n.247_248del
ENST00000574740.1:n.278_279del
ENST00000576720.1:n.3280_3281del
NM_001079846.1:c.4343_4344del	NP_001073315.1:p.Cys1448SerfsTer4
NM_004380.2:c.4457_4458del	NP_004371.2:p.Cys1486SerfsTer4
XM_005255124.3:c.4412_4413del	XP_005255181.1:p.Cys1471SerfsTer4
XM_005255125.3:c.4040_4041del	XP_005255182.1:p.Cys1347SerfsTer4
XM_006720848.2:c.4196_4197del	XP_006720911.1:p.Cys1399SerfsTer4
XM_011522380.1:c.4403_4404del	XP_011520682.1:p.Cys1468SerfsTer4
XM_011522381.1:c.3704_3705del	XP_011520683.1:p.Cys1235SerfsTer4
XM_005255124.4:c.4412_4413del	XP_005255181.1:p.Cys1471SerfsTer4
XM_005255125.4:c.4040_4041del	XP_005255182.1:p.Cys1347SerfsTer4
XM_006720848.3:c.4196_4197del	XP_006720911.1:p.Cys1399SerfsTer4
XM_011522381.2:c.3704_3705del	XP_011520683.1:p.Cys1235SerfsTer4
XM_017022944.1:c.4451_4452del	XP_016878433.1:p.Cys1484SerfsTer4
NM_004380.3:c.4457_4458del MANE Select	NP_004371.2:p.Cys1486SerfsTer4