Canonical Allele Identifier: CA2202928889

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC , CM000678.2:g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC	GRCh38
NC_000016.9:g.3778876_3778918delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC , CM000678.1:g.3778876_3778918delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC	GRCh37
NC_000016.8:g.3718877_3718919delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC	NCBI36
NG_009873.1:g.156204_156246delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC
NG_009873.2:g.156797_156839delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC MANE Select	ENSP00000262367.5:p.Ala2044=
ENST00000262367.9:c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	ENSP00000262367.5:p.Ala2044=
ENST00000382070.7:c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	ENSP00000371502.3:p.Ala2006=
NM_001079846.1:c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	NP_001073315.1:p.Ala2006=
NM_004380.2:c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	NP_004371.2:p.Ala2044=
XM_005255124.3:c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_005255181.1:p.Ala2029=
XM_005255125.3:c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_005255182.1:p.Ala1905=
XM_006720848.2:c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_006720911.1:p.Ala1957=
XM_011522380.1:c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_011520682.1:p.Ala2026=
XM_011522381.1:c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_011520683.1:p.Ala1793=
XM_005255124.4:c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_005255181.1:p.Ala2029=
XM_005255125.4:c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_005255182.1:p.Ala1905=
XM_006720848.3:c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_006720911.1:p.Ala1957=
XM_011522381.2:c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_011520683.1:p.Ala1793=
XM_017022944.1:c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC	XP_016878433.1:p.Ala2042=
NM_004380.3:c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC MANE Select	NP_004371.2:p.Ala2044=