Canonical Allele Identifier: CA2695196512

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736818_3736819insA , CM000678.2:g.3736818_3736819insA	GRCh38
NC_000016.9:g.3786819_3786820insA , CM000678.1:g.3786819_3786820insA	GRCh37
NC_000016.8:g.3726820_3726821insA	NCBI36
NG_009873.1:g.148302_148303insT
NG_009873.2:g.148895_148896insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-4_4395-3insT MANE Select	ENSP00000262367.5:n.4395-4_4395-3insT
ENST00000262367.9:c.4395-4_4395-3insT	ENSP00000262367.5:n.4395-4_4395-3insT
ENST00000382070.7:c.4281-4_4281-3insT	ENSP00000371502.3:n.4281-4_4281-3insT
ENST00000570939.2:c.3030-4_3030-3insT	ENSP00000461002.2:n.3030-4_3030-3insT
ENST00000571763.5:n.181_182insT
ENST00000574740.1:n.216-4_216-3insT
ENST00000576720.1:n.3218-4_3218-3insT
NM_001079846.1:c.4281-4_4281-3insT	NP_001073315.1:n.4281-4_4281-3insT
NM_004380.2:c.4395-4_4395-3insT	NP_004371.2:n.4395-4_4395-3insT
XM_005255124.3:c.4350-4_4350-3insT	XP_005255181.1:n.4350-4_4350-3insT
XM_005255125.3:c.3978-4_3978-3insT	XP_005255182.1:n.3978-4_3978-3insT
XM_006720848.2:c.4134-4_4134-3insT	XP_006720911.1:n.4134-4_4134-3insT
XM_011522380.1:c.4341-4_4341-3insT	XP_011520682.1:n.4341-4_4341-3insT
XM_011522381.1:c.3642-4_3642-3insT	XP_011520683.1:n.3642-4_3642-3insT
XM_005255124.4:c.4350-4_4350-3insT	XP_005255181.1:n.4350-4_4350-3insT
XM_005255125.4:c.3978-4_3978-3insT	XP_005255182.1:n.3978-4_3978-3insT
XM_006720848.3:c.4134-4_4134-3insT	XP_006720911.1:n.4134-4_4134-3insT
XM_011522381.2:c.3642-4_3642-3insT	XP_011520683.1:n.3642-4_3642-3insT
XM_017022944.1:c.4389-4_4389-3insT	XP_016878433.1:n.4389-4_4389-3insT
NM_004380.3:c.4395-4_4395-3insT MANE Select	NP_004371.2:n.4395-4_4395-3insT