Canonical Allele Identifier: CA645575177

Gene: CREBBP

Linked Data

• COSMIC: COSM317184

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736737_3736739del , CM000678.2:g.3736737_3736739del	GRCh38
NC_000016.9:g.3786738_3786740del , CM000678.1:g.3786738_3786740del	GRCh37
NC_000016.8:g.3726739_3726741del	NCBI36
NG_009873.1:g.148382_148384del
NG_009873.2:g.148975_148977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4471_4473del MANE Select	ENSP00000262367.5:p.Gln1491del
ENST00000262367.9:c.4471_4473del	ENSP00000262367.5:p.Gln1491del
ENST00000382070.7:c.4357_4359del	ENSP00000371502.3:p.Gln1453del
ENST00000570939.2:c.3106_3108del	ENSP00000461002.2:p.Gln1036del
ENST00000571763.5:n.261_263del
ENST00000574740.1:n.292_294del
ENST00000576720.1:n.3294_3296del
NM_001079846.1:c.4357_4359del	NP_001073315.1:p.Gln1453del
NM_004380.2:c.4471_4473del	NP_004371.2:p.Gln1491del
XM_005255124.3:c.4426_4428del	XP_005255181.1:p.Gln1476del
XM_005255125.3:c.4054_4056del	XP_005255182.1:p.Gln1352del
XM_006720848.2:c.4210_4212del	XP_006720911.1:p.Gln1404del
XM_011522380.1:c.4417_4419del	XP_011520682.1:p.Gln1473del
XM_011522381.1:c.3718_3720del	XP_011520683.1:p.Gln1240del
XM_005255124.4:c.4426_4428del	XP_005255181.1:p.Gln1476del
XM_005255125.4:c.4054_4056del	XP_005255182.1:p.Gln1352del
XM_006720848.3:c.4210_4212del	XP_006720911.1:p.Gln1404del
XM_011522381.2:c.3718_3720del	XP_011520683.1:p.Gln1240del
XM_017022944.1:c.4465_4467del	XP_016878433.1:p.Gln1489del
NM_004380.3:c.4471_4473del MANE Select	NP_004371.2:p.Gln1491del