Canonical Allele Identifier: CA2202940662

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740290_3740292delinsCAA , CM000678.2:g.3740290_3740292delinsCAA	GRCh38
NC_000016.9:g.3790291_3790293delinsCAA , CM000678.1:g.3790291_3790293delinsCAA	GRCh37
NC_000016.8:g.3730292_3730294delinsCAA	NCBI36
NG_009873.1:g.144829_144831delinsTTG
NG_009873.2:g.145422_145424delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+107_4133+109delinsTTG MANE Select	ENSP00000262367.5:n.4133+107_4133+109delinsTTG
ENST00000262367.9:c.4133+107_4133+109delinsTTG	ENSP00000262367.5:n.4133+107_4133+109delinsTTG
ENST00000382070.7:c.4019+107_4019+109delinsTTG	ENSP00000371502.3:n.4019+107_4019+109delinsTTG
ENST00000570939.2:c.2768+107_2768+109delinsTTG	ENSP00000461002.2:n.2768+107_2768+109delinsTTG
ENST00000573517.6:c.439+107_439+109delinsTTG
ENST00000574740.1:n.215+107_215+109delinsTTG
ENST00000576720.1:n.3070+107_3070+109delinsTTG
NM_001079846.1:c.4019+107_4019+109delinsTTG	NP_001073315.1:n.4019+107_4019+109delinsTTG
NM_004380.2:c.4133+107_4133+109delinsTTG	NP_004371.2:n.4133+107_4133+109delinsTTG
XM_005255124.3:c.4088+107_4088+109delinsTTG	XP_005255181.1:n.4088+107_4088+109delinsTTG
XM_005255125.3:c.3716+107_3716+109delinsTTG	XP_005255182.1:n.3716+107_3716+109delinsTTG
XM_006720848.2:c.4133+107_4133+109delinsTTG	XP_006720911.1:n.4133+107_4133+109delinsTTG
XM_011522380.1:c.4079+107_4079+109delinsTTG	XP_011520682.1:n.4079+107_4079+109delinsTTG
XM_011522381.1:c.3380+107_3380+109delinsTTG	XP_011520683.1:n.3380+107_3380+109delinsTTG
XM_005255124.4:c.4088+107_4088+109delinsTTG	XP_005255181.1:n.4088+107_4088+109delinsTTG
XM_005255125.4:c.3716+107_3716+109delinsTTG	XP_005255182.1:n.3716+107_3716+109delinsTTG
XM_006720848.3:c.4133+107_4133+109delinsTTG	XP_006720911.1:n.4133+107_4133+109delinsTTG
XM_011522381.2:c.3380+107_3380+109delinsTTG	XP_011520683.1:n.3380+107_3380+109delinsTTG
XM_017022944.1:c.4127+107_4127+109delinsTTG	XP_016878433.1:n.4127+107_4127+109delinsTTG
NM_004380.3:c.4133+107_4133+109delinsTTG MANE Select	NP_004371.2:n.4133+107_4133+109delinsTTG