Canonical Allele Identifier: CA2573151999

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778731del , CM000678.2:g.3778731del	GRCh38
NC_000016.9:g.3828732del , CM000678.1:g.3828732del	GRCh37
NC_000016.8:g.3768733del	NCBI36
NG_009873.1:g.106391del
NG_009873.2:g.106984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1911del MANE Select	ENSP00000262367.5:p.Asp639ThrfsTer16
ENST00000262367.9:c.1911del	ENSP00000262367.5:p.Asp639ThrfsTer16
ENST00000382070.7:c.1797del	ENSP00000371502.3:p.Asp601ThrfsTer16
ENST00000570939.2:c.516del	ENSP00000461002.2:p.Asp174ThrfsTer16
ENST00000572134.1:c.224del
ENST00000634839.1:n.73del
NM_001079846.1:c.1797del	NP_001073315.1:p.Asp601ThrfsTer16
NM_004380.2:c.1911del	NP_004371.2:p.Asp639ThrfsTer16
XM_005255124.3:c.1911del	XP_005255181.1:p.Asp639ThrfsTer16
XM_005255125.3:c.1911del	XP_005255182.1:p.Asp639ThrfsTer16
XM_006720848.2:c.1911del	XP_006720911.1:p.Asp639ThrfsTer16
XM_011522380.1:c.1857del	XP_011520682.1:p.Asp621ThrfsTer16
XM_011522381.1:c.1158del	XP_011520683.1:p.Asp388ThrfsTer16
XM_011522382.1:c.1911del	XP_011520684.1:p.Asp639ThrfsTer16
XM_005255124.4:c.1911del	XP_005255181.1:p.Asp639ThrfsTer16
XM_005255125.4:c.1911del	XP_005255182.1:p.Asp639ThrfsTer16
XM_006720848.3:c.1911del	XP_006720911.1:p.Asp639ThrfsTer16
XM_011522381.2:c.1158del	XP_011520683.1:p.Asp388ThrfsTer16
XM_011522382.3:c.1911del	XP_011520684.1:p.Asp639ThrfsTer16
XM_017022944.1:c.1911del	XP_016878433.1:p.Asp639ThrfsTer16
NM_004380.3:c.1911del MANE Select	NP_004371.2:p.Asp639ThrfsTer16