Canonical Allele Identifier: CA2202916440

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051853299

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729531_3729532insCCAA , CM000678.2:g.3729531_3729532insCCAA	GRCh38
NC_000016.9:g.3779532_3779533insCCAA , CM000678.1:g.3779532_3779533insCCAA	GRCh37
NC_000016.8:g.3719533_3719534insCCAA	NCBI36
NG_009873.1:g.155589_155590insTTGG
NG_009873.2:g.156182_156183insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5515_5516insTTGG MANE Select	ENSP00000262367.5:p.Pro1839LeufsTer?
ENST00000262367.9:c.5515_5516insTTGG	ENSP00000262367.5:p.Pro1839LeufsTer?
ENST00000382070.7:c.5401_5402insTTGG	ENSP00000371502.3:p.Pro1801LeufsTer?
NM_001079846.1:c.5401_5402insTTGG	NP_001073315.1:p.Pro1801LeufsTer?
NM_004380.2:c.5515_5516insTTGG	NP_004371.2:p.Pro1839LeufsTer?
XM_005255124.3:c.5470_5471insTTGG	XP_005255181.1:p.Pro1824LeufsTer?
XM_005255125.3:c.5098_5099insTTGG	XP_005255182.1:p.Pro1700LeufsTer?
XM_006720848.2:c.5254_5255insTTGG	XP_006720911.1:p.Pro1752LeufsTer?
XM_011522380.1:c.5461_5462insTTGG	XP_011520682.1:p.Pro1821LeufsTer?
XM_011522381.1:c.4762_4763insTTGG	XP_011520683.1:p.Pro1588LeufsTer?
XM_005255124.4:c.5470_5471insTTGG	XP_005255181.1:p.Pro1824LeufsTer?
XM_005255125.4:c.5098_5099insTTGG	XP_005255182.1:p.Pro1700LeufsTer?
XM_006720848.3:c.5254_5255insTTGG	XP_006720911.1:p.Pro1752LeufsTer?
XM_011522381.2:c.4762_4763insTTGG	XP_011520683.1:p.Pro1588LeufsTer?
XM_017022944.1:c.5509_5510insTTGG	XP_016878433.1:p.Pro1837LeufsTer?
NM_004380.3:c.5515_5516insTTGG MANE Select	NP_004371.2:p.Pro1839LeufsTer?