Canonical Allele Identifier: CA2202940519

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740175_3740180delinsCTATAA , CM000678.2:g.3740175_3740180delinsCTATAA	GRCh38
NC_000016.9:g.3790176_3790181delinsCTATAA , CM000678.1:g.3790176_3790181delinsCTATAA	GRCh37
NC_000016.8:g.3730177_3730182delinsCTATAA	NCBI36
NG_009873.1:g.144941_144946delinsTTATAG
NG_009873.2:g.145534_145539delinsTTATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+219_4133+224delinsTTATAG MANE Select	ENSP00000262367.5:n.4133+219_4133+224delinsTTATAG
ENST00000262367.9:c.4133+219_4133+224delinsTTATAG	ENSP00000262367.5:n.4133+219_4133+224delinsTTATAG
ENST00000382070.7:c.4019+219_4019+224delinsTTATAG	ENSP00000371502.3:n.4019+219_4019+224delinsTTATAG
ENST00000570939.2:c.2768+219_2768+224delinsTTATAG	ENSP00000461002.2:n.2768+219_2768+224delinsTTATAG
ENST00000573517.6:c.439+219_439+224delinsTTATAG
ENST00000574740.1:n.215+219_215+224delinsTTATAG
ENST00000576720.1:n.3070+219_3070+224delinsTTATAG
NM_001079846.1:c.4019+219_4019+224delinsTTATAG	NP_001073315.1:n.4019+219_4019+224delinsTTATAG
NM_004380.2:c.4133+219_4133+224delinsTTATAG	NP_004371.2:n.4133+219_4133+224delinsTTATAG
XM_005255124.3:c.4088+219_4088+224delinsTTATAG	XP_005255181.1:n.4088+219_4088+224delinsTTATAG
XM_005255125.3:c.3716+219_3716+224delinsTTATAG	XP_005255182.1:n.3716+219_3716+224delinsTTATAG
XM_006720848.2:c.4133+219_4133+224delinsTTATAG	XP_006720911.1:n.4133+219_4133+224delinsTTATAG
XM_011522380.1:c.4079+219_4079+224delinsTTATAG	XP_011520682.1:n.4079+219_4079+224delinsTTATAG
XM_011522381.1:c.3380+219_3380+224delinsTTATAG	XP_011520683.1:n.3380+219_3380+224delinsTTATAG
XM_005255124.4:c.4088+219_4088+224delinsTTATAG	XP_005255181.1:n.4088+219_4088+224delinsTTATAG
XM_005255125.4:c.3716+219_3716+224delinsTTATAG	XP_005255182.1:n.3716+219_3716+224delinsTTATAG
XM_006720848.3:c.4133+219_4133+224delinsTTATAG	XP_006720911.1:n.4133+219_4133+224delinsTTATAG
XM_011522381.2:c.3380+219_3380+224delinsTTATAG	XP_011520683.1:n.3380+219_3380+224delinsTTATAG
XM_017022944.1:c.4127+219_4127+224delinsTTATAG	XP_016878433.1:n.4127+219_4127+224delinsTTATAG
NM_004380.3:c.4133+219_4133+224delinsTTATAG MANE Select	NP_004371.2:n.4133+219_4133+224delinsTTATAG