Canonical Allele Identifier: CA645575157

Gene: CREBBP

Linked Data

• COSMIC: COSM5751227

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728905_3728906insT , CM000678.2:g.3728905_3728906insT	GRCh38
NC_000016.9:g.3778906_3778907insT , CM000678.1:g.3778906_3778907insT	GRCh37
NC_000016.8:g.3718907_3718908insT	NCBI36
NG_009873.1:g.156215_156216insA
NG_009873.2:g.156808_156809insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6141_6142insA MANE Select	ENSP00000262367.5:p.Val2048SerfsTer?
ENST00000262367.9:c.6141_6142insA	ENSP00000262367.5:p.Val2048SerfsTer?
ENST00000382070.7:c.6027_6028insA	ENSP00000371502.3:p.Val2010SerfsTer?
NM_001079846.1:c.6027_6028insA	NP_001073315.1:p.Val2010SerfsTer?
NM_004380.2:c.6141_6142insA	NP_004371.2:p.Val2048SerfsTer?
XM_005255124.3:c.6096_6097insA	XP_005255181.1:p.Val2033SerfsTer?
XM_005255125.3:c.5724_5725insA	XP_005255182.1:p.Val1909SerfsTer?
XM_006720848.2:c.5880_5881insA	XP_006720911.1:p.Val1961SerfsTer?
XM_011522380.1:c.6087_6088insA	XP_011520682.1:p.Val2030SerfsTer?
XM_011522381.1:c.5388_5389insA	XP_011520683.1:p.Val1797SerfsTer?
XM_005255124.4:c.6096_6097insA	XP_005255181.1:p.Val2033SerfsTer?
XM_005255125.4:c.5724_5725insA	XP_005255182.1:p.Val1909SerfsTer?
XM_006720848.3:c.5880_5881insA	XP_006720911.1:p.Val1961SerfsTer?
XM_011522381.2:c.5388_5389insA	XP_011520683.1:p.Val1797SerfsTer?
XM_017022944.1:c.6135_6136insA	XP_016878433.1:p.Val2046SerfsTer?
NM_004380.3:c.6141_6142insA MANE Select	NP_004371.2:p.Val2048SerfsTer?