Canonical Allele Identifier: CA2731850961

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330162

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736809del , CM000678.2:g.3736809del	GRCh38
NC_000016.9:g.3786810del , CM000678.1:g.3786810del	GRCh37
NC_000016.8:g.3726811del	NCBI36
NG_009873.1:g.148312del
NG_009873.2:g.148905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4401del MANE Select	ENSP00000262367.5:p.Thr1468GlnfsTer?
ENST00000262367.9:c.4401del	ENSP00000262367.5:p.Thr1468GlnfsTer?
ENST00000382070.7:c.4287del	ENSP00000371502.3:p.Thr1430GlnfsTer?
ENST00000570939.2:c.3036del	ENSP00000461002.2:p.Thr1013GlnfsTer?
ENST00000571763.5:n.191del
ENST00000574740.1:n.222del
ENST00000576720.1:n.3224del
NM_001079846.1:c.4287del	NP_001073315.1:p.Thr1430GlnfsTer?
NM_004380.2:c.4401del	NP_004371.2:p.Thr1468GlnfsTer?
XM_005255124.3:c.4356del	XP_005255181.1:p.Thr1453GlnfsTer?
XM_005255125.3:c.3984del	XP_005255182.1:p.Thr1329GlnfsTer?
XM_006720848.2:c.4140del	XP_006720911.1:p.Thr1381GlnfsTer?
XM_011522380.1:c.4347del	XP_011520682.1:p.Thr1450GlnfsTer?
XM_011522381.1:c.3648del	XP_011520683.1:p.Thr1217GlnfsTer?
XM_005255124.4:c.4356del	XP_005255181.1:p.Thr1453GlnfsTer?
XM_005255125.4:c.3984del	XP_005255182.1:p.Thr1329GlnfsTer?
XM_006720848.3:c.4140del	XP_006720911.1:p.Thr1381GlnfsTer?
XM_011522381.2:c.3648del	XP_011520683.1:p.Thr1217GlnfsTer?
XM_017022944.1:c.4395del	XP_016878433.1:p.Thr1466GlnfsTer?
NM_004380.3:c.4401del MANE Select	NP_004371.2:p.Thr1468GlnfsTer?