Canonical Allele Identifier: CA656223170

Gene: CREBBP

Linked Data

• COSMIC: COSN507749

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736535_3736538del , CM000678.2:g.3736535_3736538del	GRCh38
NC_000016.9:g.3786536_3786539del , CM000678.1:g.3786536_3786539del	GRCh37
NC_000016.8:g.3726537_3726540del	NCBI36
NG_009873.1:g.148585_148588del
NG_009873.2:g.149178_149181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+114_4560+117del MANE Select	ENSP00000262367.5:n.4560+114_4560+117del
ENST00000262367.9:c.4560+114_4560+117del	ENSP00000262367.5:n.4560+114_4560+117del
ENST00000382070.7:c.4446+114_4446+117del	ENSP00000371502.3:n.4446+114_4446+117del
ENST00000570939.2:c.3195+114_3195+117del	ENSP00000461002.2:n.3195+114_3195+117del
ENST00000571763.5:n.350+114_350+117del
ENST00000574740.1:n.495_498del
ENST00000576720.1:n.3383+114_3383+117del
NM_001079846.1:c.4446+114_4446+117del	NP_001073315.1:n.4446+114_4446+117del
NM_004380.2:c.4560+114_4560+117del	NP_004371.2:n.4560+114_4560+117del
XM_005255124.3:c.4515+114_4515+117del	XP_005255181.1:n.4515+114_4515+117del
XM_005255125.3:c.4143+114_4143+117del	XP_005255182.1:n.4143+114_4143+117del
XM_006720848.2:c.4299+114_4299+117del	XP_006720911.1:n.4299+114_4299+117del
XM_011522380.1:c.4506+114_4506+117del	XP_011520682.1:n.4506+114_4506+117del
XM_011522381.1:c.3807+114_3807+117del	XP_011520683.1:n.3807+114_3807+117del
XM_005255124.4:c.4515+114_4515+117del	XP_005255181.1:n.4515+114_4515+117del
XM_005255125.4:c.4143+114_4143+117del	XP_005255182.1:n.4143+114_4143+117del
XM_006720848.3:c.4299+114_4299+117del	XP_006720911.1:n.4299+114_4299+117del
XM_011522381.2:c.3807+114_3807+117del	XP_011520683.1:n.3807+114_3807+117del
XM_017022944.1:c.4554+114_4554+117del	XP_016878433.1:n.4554+114_4554+117del
NM_004380.3:c.4560+114_4560+117del MANE Select	NP_004371.2:n.4560+114_4560+117del