Canonical Allele Identifier: CA493279624

Gene: CREBBP

Linked Data

• COSMIC: COSM970566
• MyVariant Identifiers: chr16:g.3786792del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736792del , CM000678.2:g.3736792del	GRCh38
NC_000016.9:g.3786793del , CM000678.1:g.3786793del	GRCh37
NC_000016.8:g.3726794del	NCBI36
NG_009873.1:g.148330del
NG_009873.2:g.148923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4419del MANE Select	ENSP00000262367.5:p.Cys1474ValfsTer?
ENST00000262367.9:c.4419del	ENSP00000262367.5:p.Cys1474ValfsTer?
ENST00000382070.7:c.4305del	ENSP00000371502.3:p.Cys1436ValfsTer?
ENST00000570939.2:c.3054del	ENSP00000461002.2:p.Cys1019ValfsTer?
ENST00000571763.5:n.209del
ENST00000574740.1:n.240del
ENST00000576720.1:n.3242del
NM_001079846.1:c.4305del	NP_001073315.1:p.Cys1436ValfsTer?
NM_004380.2:c.4419del	NP_004371.2:p.Cys1474ValfsTer?
XM_005255124.3:c.4374del	XP_005255181.1:p.Cys1459ValfsTer?
XM_005255125.3:c.4002del	XP_005255182.1:p.Cys1335ValfsTer?
XM_006720848.2:c.4158del	XP_006720911.1:p.Cys1387ValfsTer?
XM_011522380.1:c.4365del	XP_011520682.1:p.Cys1456ValfsTer?
XM_011522381.1:c.3666del	XP_011520683.1:p.Cys1223ValfsTer?
XM_005255124.4:c.4374del	XP_005255181.1:p.Cys1459ValfsTer?
XM_005255125.4:c.4002del	XP_005255182.1:p.Cys1335ValfsTer?
XM_006720848.3:c.4158del	XP_006720911.1:p.Cys1387ValfsTer?
XM_011522381.2:c.3666del	XP_011520683.1:p.Cys1223ValfsTer?
XM_017022944.1:c.4413del	XP_016878433.1:p.Cys1472ValfsTer?
NM_004380.3:c.4419del MANE Select	NP_004371.2:p.Cys1474ValfsTer?