Canonical Allele Identifier: CA2202940455

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740132_3740135delinsCAAG , CM000678.2:g.3740132_3740135delinsCAAG	GRCh38
NC_000016.9:g.3790133_3790136delinsCAAG , CM000678.1:g.3790133_3790136delinsCAAG	GRCh37
NC_000016.8:g.3730134_3730137delinsCAAG	NCBI36
NG_009873.1:g.144986_144989delinsCTTG
NG_009873.2:g.145579_145582delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+264_4133+267delinsCTTG MANE Select	ENSP00000262367.5:n.4133+264_4133+267delinsCTTG
ENST00000262367.9:c.4133+264_4133+267delinsCTTG	ENSP00000262367.5:n.4133+264_4133+267delinsCTTG
ENST00000382070.7:c.4019+264_4019+267delinsCTTG	ENSP00000371502.3:n.4019+264_4019+267delinsCTTG
ENST00000570939.2:c.2768+264_2768+267delinsCTTG	ENSP00000461002.2:n.2768+264_2768+267delinsCTTG
ENST00000573517.6:c.439+264_439+267delinsCTTG
ENST00000574740.1:n.215+264_215+267delinsCTTG
ENST00000576720.1:n.3070+264_3070+267delinsCTTG
NM_001079846.1:c.4019+264_4019+267delinsCTTG	NP_001073315.1:n.4019+264_4019+267delinsCTTG
NM_004380.2:c.4133+264_4133+267delinsCTTG	NP_004371.2:n.4133+264_4133+267delinsCTTG
XM_005255124.3:c.4088+264_4088+267delinsCTTG	XP_005255181.1:n.4088+264_4088+267delinsCTTG
XM_005255125.3:c.3716+264_3716+267delinsCTTG	XP_005255182.1:n.3716+264_3716+267delinsCTTG
XM_006720848.2:c.4133+264_4133+267delinsCTTG	XP_006720911.1:n.4133+264_4133+267delinsCTTG
XM_011522380.1:c.4079+264_4079+267delinsCTTG	XP_011520682.1:n.4079+264_4079+267delinsCTTG
XM_011522381.1:c.3380+264_3380+267delinsCTTG	XP_011520683.1:n.3380+264_3380+267delinsCTTG
XM_005255124.4:c.4088+264_4088+267delinsCTTG	XP_005255181.1:n.4088+264_4088+267delinsCTTG
XM_005255125.4:c.3716+264_3716+267delinsCTTG	XP_005255182.1:n.3716+264_3716+267delinsCTTG
XM_006720848.3:c.4133+264_4133+267delinsCTTG	XP_006720911.1:n.4133+264_4133+267delinsCTTG
XM_011522381.2:c.3380+264_3380+267delinsCTTG	XP_011520683.1:n.3380+264_3380+267delinsCTTG
XM_017022944.1:c.4127+264_4127+267delinsCTTG	XP_016878433.1:n.4127+264_4127+267delinsCTTG
NM_004380.3:c.4133+264_4133+267delinsCTTG MANE Select	NP_004371.2:n.4133+264_4133+267delinsCTTG