Canonical Allele Identifier: CA2202936107

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052058412

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736324_3736325del , CM000678.2:g.3736324_3736325del	GRCh38
NC_000016.9:g.3786325_3786326del , CM000678.1:g.3786325_3786326del	GRCh37
NC_000016.8:g.3726326_3726327del	NCBI36
NG_009873.1:g.148800_148801del
NG_009873.2:g.149393_149394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-118_4561-117del MANE Select	ENSP00000262367.5:n.4561-118_4561-117del
ENST00000262367.9:c.4561-118_4561-117del	ENSP00000262367.5:n.4561-118_4561-117del
ENST00000382070.7:c.4447-118_4447-117del	ENSP00000371502.3:n.4447-118_4447-117del
ENST00000570939.2:c.3196-118_3196-117del	ENSP00000461002.2:n.3196-118_3196-117del
ENST00000571763.5:n.351-118_351-117del
ENST00000576720.1:n.3384-118_3384-117del
NM_001079846.1:c.4447-118_4447-117del	NP_001073315.1:n.4447-118_4447-117del
NM_004380.2:c.4561-118_4561-117del	NP_004371.2:n.4561-118_4561-117del
XM_005255124.3:c.4516-118_4516-117del	XP_005255181.1:n.4516-118_4516-117del
XM_005255125.3:c.4144-118_4144-117del	XP_005255182.1:n.4144-118_4144-117del
XM_006720848.2:c.4300-118_4300-117del	XP_006720911.1:n.4300-118_4300-117del
XM_011522380.1:c.4507-118_4507-117del	XP_011520682.1:n.4507-118_4507-117del
XM_011522381.1:c.3808-118_3808-117del	XP_011520683.1:n.3808-118_3808-117del
XM_005255124.4:c.4516-118_4516-117del	XP_005255181.1:n.4516-118_4516-117del
XM_005255125.4:c.4144-118_4144-117del	XP_005255182.1:n.4144-118_4144-117del
XM_006720848.3:c.4300-118_4300-117del	XP_006720911.1:n.4300-118_4300-117del
XM_011522381.2:c.3808-118_3808-117del	XP_011520683.1:n.3808-118_3808-117del
XM_017022944.1:c.4555-118_4555-117del	XP_016878433.1:n.4555-118_4555-117del
NM_004380.3:c.4561-118_4561-117del MANE Select	NP_004371.2:n.4561-118_4561-117del