Canonical Allele Identifier: CA2631423305

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3740329-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740334_3740335dup , CM000678.2:g.3740334_3740335dup	GRCh38
NC_000016.9:g.3790335_3790336dup , CM000678.1:g.3790335_3790336dup	GRCh37
NC_000016.8:g.3730336_3730337dup	NCBI36
NG_009873.1:g.144790_144791dup
NG_009873.2:g.145383_145384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+68_4133+69dup MANE Select	ENSP00000262367.5:n.4133+68_4133+69dup
ENST00000262367.9:c.4133+68_4133+69dup	ENSP00000262367.5:n.4133+68_4133+69dup
ENST00000382070.7:c.4019+68_4019+69dup	ENSP00000371502.3:n.4019+68_4019+69dup
ENST00000570939.2:c.2768+68_2768+69dup	ENSP00000461002.2:n.2768+68_2768+69dup
ENST00000573517.6:c.439+68_439+69dup
ENST00000574740.1:n.215+68_215+69dup
ENST00000576720.1:n.3070+68_3070+69dup
NM_001079846.1:c.4019+68_4019+69dup	NP_001073315.1:n.4019+68_4019+69dup
NM_004380.2:c.4133+68_4133+69dup	NP_004371.2:n.4133+68_4133+69dup
XM_005255124.3:c.4088+68_4088+69dup	XP_005255181.1:n.4088+68_4088+69dup
XM_005255125.3:c.3716+68_3716+69dup	XP_005255182.1:n.3716+68_3716+69dup
XM_006720848.2:c.4133+68_4133+69dup	XP_006720911.1:n.4133+68_4133+69dup
XM_011522380.1:c.4079+68_4079+69dup	XP_011520682.1:n.4079+68_4079+69dup
XM_011522381.1:c.3380+68_3380+69dup	XP_011520683.1:n.3380+68_3380+69dup
XM_005255124.4:c.4088+68_4088+69dup	XP_005255181.1:n.4088+68_4088+69dup
XM_005255125.4:c.3716+68_3716+69dup	XP_005255182.1:n.3716+68_3716+69dup
XM_006720848.3:c.4133+68_4133+69dup	XP_006720911.1:n.4133+68_4133+69dup
XM_011522381.2:c.3380+68_3380+69dup	XP_011520683.1:n.3380+68_3380+69dup
XM_017022944.1:c.4127+68_4127+69dup	XP_016878433.1:n.4127+68_4127+69dup
NM_004380.3:c.4133+68_4133+69dup MANE Select	NP_004371.2:n.4133+68_4133+69dup