Canonical Allele Identifier: CA973908216

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052164949
• gnomAD v3: 16-3740114-GGCACA-G
• gnomAD v4: 16-3740114-GGCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740118_3740122del , CM000678.2:g.3740118_3740122del	GRCh38
NC_000016.9:g.3790119_3790123del , CM000678.1:g.3790119_3790123del	GRCh37
NC_000016.8:g.3730120_3730124del	NCBI36
NG_009873.1:g.145002_145006del
NG_009873.2:g.145595_145599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+280_4133+284del MANE Select	ENSP00000262367.5:n.4133+280_4133+284del
ENST00000262367.9:c.4133+280_4133+284del	ENSP00000262367.5:n.4133+280_4133+284del
ENST00000382070.7:c.4019+280_4019+284del	ENSP00000371502.3:n.4019+280_4019+284del
ENST00000570939.2:c.2768+280_2768+284del	ENSP00000461002.2:n.2768+280_2768+284del
ENST00000573517.6:c.439+280_439+284del
ENST00000574740.1:n.215+280_215+284del
ENST00000576720.1:n.3070+280_3070+284del
NM_001079846.1:c.4019+280_4019+284del	NP_001073315.1:n.4019+280_4019+284del
NM_004380.2:c.4133+280_4133+284del	NP_004371.2:n.4133+280_4133+284del
XM_005255124.3:c.4088+280_4088+284del	XP_005255181.1:n.4088+280_4088+284del
XM_005255125.3:c.3716+280_3716+284del	XP_005255182.1:n.3716+280_3716+284del
XM_006720848.2:c.4133+280_4133+284del	XP_006720911.1:n.4133+280_4133+284del
XM_011522380.1:c.4079+280_4079+284del	XP_011520682.1:n.4079+280_4079+284del
XM_011522381.1:c.3380+280_3380+284del	XP_011520683.1:n.3380+280_3380+284del
XM_005255124.4:c.4088+280_4088+284del	XP_005255181.1:n.4088+280_4088+284del
XM_005255125.4:c.3716+280_3716+284del	XP_005255182.1:n.3716+280_3716+284del
XM_006720848.3:c.4133+280_4133+284del	XP_006720911.1:n.4133+280_4133+284del
XM_011522381.2:c.3380+280_3380+284del	XP_011520683.1:n.3380+280_3380+284del
XM_017022944.1:c.4127+280_4127+284del	XP_016878433.1:n.4127+280_4127+284del
NM_004380.3:c.4133+280_4133+284del MANE Select	NP_004371.2:n.4133+280_4133+284del