Canonical Allele Identifier: CA2573151997

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1619500
• ClinVar RCV Id: RCV002088884
• dbSNP Id: rs2141347625

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810799del , CM000678.2:g.3810799del	GRCh38
NC_000016.9:g.3860800del , CM000678.1:g.3860800del	GRCh37
NC_000016.8:g.3800801del	NCBI36
NG_009873.1:g.74323del
NG_009873.2:g.74916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-19del MANE Select	ENSP00000262367.5:n.799-19del
ENST00000635899.1:n.41-19del
ENST00000262367.9:c.799-19del	ENSP00000262367.5:n.799-19del
ENST00000382070.7:c.799-19del	ENSP00000371502.3:n.799-19del
NM_001079846.1:c.799-19del	NP_001073315.1:n.799-19del
NM_004380.2:c.799-19del	NP_004371.2:n.799-19del
XM_005255124.3:c.799-19del	XP_005255181.1:n.799-19del
XM_005255125.3:c.799-19del	XP_005255182.1:n.799-19del
XM_006720848.2:c.799-19del	XP_006720911.1:n.799-19del
XM_011522380.1:c.745-19del	XP_011520682.1:n.745-19del
XM_011522381.1:c.46-19del	XP_011520683.1:n.46-19del
XM_011522382.1:c.799-19del	XP_011520684.1:n.799-19del
XM_005255124.4:c.799-19del	XP_005255181.1:n.799-19del
XM_005255125.4:c.799-19del	XP_005255182.1:n.799-19del
XM_006720848.3:c.799-19del	XP_006720911.1:n.799-19del
XM_011522381.2:c.46-19del	XP_011520683.1:n.46-19del
XM_011522382.3:c.799-19del	XP_011520684.1:n.799-19del
XM_017022944.1:c.799-19del	XP_016878433.1:n.799-19del
NM_004380.3:c.799-19del MANE Select	NP_004371.2:n.799-19del