Canonical Allele Identifier: CA2573102957

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1805452
• ClinVar RCV Id: RCV002471870

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729043_3729044del , CM000678.2:g.3729043_3729044del	GRCh38
NC_000016.9:g.3779044_3779045del , CM000678.1:g.3779044_3779045del	GRCh37
NC_000016.8:g.3719045_3719046del	NCBI36
NG_009873.1:g.156079_156080del
NG_009873.2:g.156672_156673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6005_6006del MANE Select	ENSP00000262367.5:p.Val2002AlafsTer?
ENST00000262367.9:c.6005_6006del	ENSP00000262367.5:p.Val2002AlafsTer?
ENST00000382070.7:c.5891_5892del	ENSP00000371502.3:p.Val1964AlafsTer?
NM_001079846.1:c.5891_5892del	NP_001073315.1:p.Val1964AlafsTer?
NM_004380.2:c.6005_6006del	NP_004371.2:p.Val2002AlafsTer?
XM_005255124.3:c.5960_5961del	XP_005255181.1:p.Val1987AlafsTer?
XM_005255125.3:c.5588_5589del	XP_005255182.1:p.Val1863AlafsTer?
XM_006720848.2:c.5744_5745del	XP_006720911.1:p.Val1915AlafsTer?
XM_011522380.1:c.5951_5952del	XP_011520682.1:p.Val1984AlafsTer?
XM_011522381.1:c.5252_5253del	XP_011520683.1:p.Val1751AlafsTer?
XM_005255124.4:c.5960_5961del	XP_005255181.1:p.Val1987AlafsTer?
XM_005255125.4:c.5588_5589del	XP_005255182.1:p.Val1863AlafsTer?
XM_006720848.3:c.5744_5745del	XP_006720911.1:p.Val1915AlafsTer?
XM_011522381.2:c.5252_5253del	XP_011520683.1:p.Val1751AlafsTer?
XM_017022944.1:c.5999_6000del	XP_016878433.1:p.Val2000AlafsTer?
NM_004380.3:c.6005_6006del MANE Select	NP_004371.2:p.Val2002AlafsTer?