Canonical Allele Identifier: CA1139664457

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 960417
• ClinVar RCV Id: RCV001233937
• dbSNP Id: rs2055490682

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3879884del , CM000678.2:g.3879884del	GRCh38
NC_000016.9:g.3929885del , CM000678.1:g.3929885del	GRCh37
NC_000016.8:g.3869886del	NCBI36
NG_009873.1:g.5240del
NG_009873.2:g.5833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.36del MANE Select	ENSP00000262367.5:p.Arg14GlufsTer?
ENST00000262367.9:c.36del	ENSP00000262367.5:p.Arg14GlufsTer?
ENST00000382070.7:c.36del	ENSP00000371502.3:p.Arg14GlufsTer?
NM_001079846.1:c.36del	NP_001073315.1:p.Arg14GlufsTer?
NM_004380.2:c.36del	NP_004371.2:p.Arg14GlufsTer?
XM_005255124.3:c.36del	XP_005255181.1:p.Arg14GlufsTer?
XM_005255125.3:c.36del	XP_005255182.1:p.Arg14GlufsTer?
XM_006720848.2:c.36del	XP_006720911.1:p.Arg14GlufsTer?
XM_011522382.1:c.36del	XP_011520684.1:p.Arg14GlufsTer?
XM_005255124.4:c.36del	XP_005255181.1:p.Arg14GlufsTer?
XM_005255125.4:c.36del	XP_005255182.1:p.Arg14GlufsTer?
XM_006720848.3:c.36del	XP_006720911.1:p.Arg14GlufsTer?
XM_011522382.3:c.36del	XP_011520684.1:p.Arg14GlufsTer?
XM_017022944.1:c.36del	XP_016878433.1:p.Arg14GlufsTer?
NM_004380.3:c.36del MANE Select	NP_004371.2:p.Arg14GlufsTer?