Canonical Allele Identifier: CA645575178

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 9431
• ClinVar RCV Id: RCV000010038
• dbSNP Id: rs2151330140
• COSMIC: COSM4169377

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736805_3736806del , CM000678.2:g.3736805_3736806del	GRCh38
NC_000016.9:g.3786806_3786807del , CM000678.1:g.3786806_3786807del	GRCh37
NC_000016.8:g.3726807_3726808del	NCBI36
NG_009873.1:g.148315_148316del
NG_009873.2:g.148908_148909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4404_4405del MANE Select	ENSP00000262367.5:p.Gly1469AlafsTer9
ENST00000262367.9:c.4404_4405del	ENSP00000262367.5:p.Gly1469AlafsTer9
ENST00000382070.7:c.4290_4291del	ENSP00000371502.3:p.Gly1431AlafsTer9
ENST00000570939.2:c.3039_3040del	ENSP00000461002.2:p.Gly1014AlafsTer9
ENST00000571763.5:n.194_195del
ENST00000574740.1:n.225_226del
ENST00000576720.1:n.3227_3228del
NM_001079846.1:c.4290_4291del	NP_001073315.1:p.Gly1431AlafsTer9
NM_004380.2:c.4404_4405del	NP_004371.2:p.Gly1469AlafsTer9
XM_005255124.3:c.4359_4360del	XP_005255181.1:p.Gly1454AlafsTer9
XM_005255125.3:c.3987_3988del	XP_005255182.1:p.Gly1330AlafsTer9
XM_006720848.2:c.4143_4144del	XP_006720911.1:p.Gly1382AlafsTer9
XM_011522380.1:c.4350_4351del	XP_011520682.1:p.Gly1451AlafsTer9
XM_011522381.1:c.3651_3652del	XP_011520683.1:p.Gly1218AlafsTer9
XM_005255124.4:c.4359_4360del	XP_005255181.1:p.Gly1454AlafsTer9
XM_005255125.4:c.3987_3988del	XP_005255182.1:p.Gly1330AlafsTer9
XM_006720848.3:c.4143_4144del	XP_006720911.1:p.Gly1382AlafsTer9
XM_011522381.2:c.3651_3652del	XP_011520683.1:p.Gly1218AlafsTer9
XM_017022944.1:c.4398_4399del	XP_016878433.1:p.Gly1467AlafsTer9
NM_004380.3:c.4404_4405del MANE Select	NP_004371.2:p.Gly1469AlafsTer9