Canonical Allele Identifier: CA2202936128

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052058896

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736326_3736327insA , CM000678.2:g.3736326_3736327insA	GRCh38
NC_000016.9:g.3786327_3786328insA , CM000678.1:g.3786327_3786328insA	GRCh37
NC_000016.8:g.3726328_3726329insA	NCBI36
NG_009873.1:g.148794_148795insT
NG_009873.2:g.149387_149388insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-124_4561-123insT MANE Select	ENSP00000262367.5:n.4561-124_4561-123insT
ENST00000262367.9:c.4561-124_4561-123insT	ENSP00000262367.5:n.4561-124_4561-123insT
ENST00000382070.7:c.4447-124_4447-123insT	ENSP00000371502.3:n.4447-124_4447-123insT
ENST00000570939.2:c.3196-124_3196-123insT	ENSP00000461002.2:n.3196-124_3196-123insT
ENST00000571763.5:n.351-124_351-123insT
ENST00000576720.1:n.3384-124_3384-123insT
NM_001079846.1:c.4447-124_4447-123insT	NP_001073315.1:n.4447-124_4447-123insT
NM_004380.2:c.4561-124_4561-123insT	NP_004371.2:n.4561-124_4561-123insT
XM_005255124.3:c.4516-124_4516-123insT	XP_005255181.1:n.4516-124_4516-123insT
XM_005255125.3:c.4144-124_4144-123insT	XP_005255182.1:n.4144-124_4144-123insT
XM_006720848.2:c.4300-124_4300-123insT	XP_006720911.1:n.4300-124_4300-123insT
XM_011522380.1:c.4507-124_4507-123insT	XP_011520682.1:n.4507-124_4507-123insT
XM_011522381.1:c.3808-124_3808-123insT	XP_011520683.1:n.3808-124_3808-123insT
XM_005255124.4:c.4516-124_4516-123insT	XP_005255181.1:n.4516-124_4516-123insT
XM_005255125.4:c.4144-124_4144-123insT	XP_005255182.1:n.4144-124_4144-123insT
XM_006720848.3:c.4300-124_4300-123insT	XP_006720911.1:n.4300-124_4300-123insT
XM_011522381.2:c.3808-124_3808-123insT	XP_011520683.1:n.3808-124_3808-123insT
XM_017022944.1:c.4555-124_4555-123insT	XP_016878433.1:n.4555-124_4555-123insT
NM_004380.3:c.4561-124_4561-123insT MANE Select	NP_004371.2:n.4561-124_4561-123insT