Canonical Allele Identifier: CA2695222699

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810675_3810676del , CM000678.2:g.3810675_3810676del	GRCh38
NC_000016.9:g.3860676_3860677del , CM000678.1:g.3860676_3860677del	GRCh37
NC_000016.8:g.3800677_3800678del	NCBI36
NG_009873.1:g.74447_74448del
NG_009873.2:g.75040_75041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.904_905del MANE Select	ENSP00000262367.5:p.Ser302HisfsTer?
ENST00000262367.9:c.904_905del	ENSP00000262367.5:p.Ser302HisfsTer?
ENST00000382070.7:c.904_905del	ENSP00000371502.3:p.Ser302HisfsTer?
NM_001079846.1:c.904_905del	NP_001073315.1:p.Ser302HisfsTer?
NM_004380.2:c.904_905del	NP_004371.2:p.Ser302HisfsTer?
XM_005255124.3:c.904_905del	XP_005255181.1:p.Ser302HisfsTer?
XM_005255125.3:c.904_905del	XP_005255182.1:p.Ser302HisfsTer?
XM_006720848.2:c.904_905del	XP_006720911.1:p.Ser302HisfsTer?
XM_011522380.1:c.850_851del	XP_011520682.1:p.Ser284HisfsTer?
XM_011522381.1:c.151_152del	XP_011520683.1:p.Ser51HisfsTer?
XM_011522382.1:c.904_905del	XP_011520684.1:p.Ser302HisfsTer?
XM_005255124.4:c.904_905del	XP_005255181.1:p.Ser302HisfsTer?
XM_005255125.4:c.904_905del	XP_005255182.1:p.Ser302HisfsTer?
XM_006720848.3:c.904_905del	XP_006720911.1:p.Ser302HisfsTer?
XM_011522381.2:c.151_152del	XP_011520683.1:p.Ser51HisfsTer?
XM_011522382.3:c.904_905del	XP_011520684.1:p.Ser302HisfsTer?
XM_017022944.1:c.904_905del	XP_016878433.1:p.Ser302HisfsTer?
NM_004380.3:c.904_905del MANE Select	NP_004371.2:p.Ser302HisfsTer?