Canonical Allele Identifier: CA720725740

Gene: CREBBP

Linked Data

• dbSNP Id: rs1455209527
• gnomAD v3: 16-3736922-C-CAG
• gnomAD v4: 16-3736922-C-CAG
• MyVariant Identifiers: chr16:g.3786923_3786924insAG (hg19) ; chr16:g.3736922_3736923insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736932_3736933dup , CM000678.2:g.3736932_3736933dup	GRCh38
NC_000016.9:g.3786933_3786934dup , CM000678.1:g.3786933_3786934dup	GRCh37
NC_000016.8:g.3726934_3726935dup	NCBI36
NG_009873.1:g.148197_148198dup
NG_009873.2:g.148790_148791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-109_4395-108dup MANE Select	ENSP00000262367.5:n.4395-109_4395-108dup
ENST00000262367.9:c.4395-109_4395-108dup	ENSP00000262367.5:n.4395-109_4395-108dup
ENST00000382070.7:c.4281-109_4281-108dup	ENSP00000371502.3:n.4281-109_4281-108dup
ENST00000570939.2:c.3030-109_3030-108dup	ENSP00000461002.2:n.3030-109_3030-108dup
ENST00000571763.5:n.76_77dup
ENST00000574740.1:n.216-109_216-108dup
ENST00000576720.1:n.3218-109_3218-108dup
NM_001079846.1:c.4281-109_4281-108dup	NP_001073315.1:n.4281-109_4281-108dup
NM_004380.2:c.4395-109_4395-108dup	NP_004371.2:n.4395-109_4395-108dup
XM_005255124.3:c.4350-109_4350-108dup	XP_005255181.1:n.4350-109_4350-108dup
XM_005255125.3:c.3978-109_3978-108dup	XP_005255182.1:n.3978-109_3978-108dup
XM_006720848.2:c.4134-109_4134-108dup	XP_006720911.1:n.4134-109_4134-108dup
XM_011522380.1:c.4341-109_4341-108dup	XP_011520682.1:n.4341-109_4341-108dup
XM_011522381.1:c.3642-109_3642-108dup	XP_011520683.1:n.3642-109_3642-108dup
XM_005255124.4:c.4350-109_4350-108dup	XP_005255181.1:n.4350-109_4350-108dup
XM_005255125.4:c.3978-109_3978-108dup	XP_005255182.1:n.3978-109_3978-108dup
XM_006720848.3:c.4134-109_4134-108dup	XP_006720911.1:n.4134-109_4134-108dup
XM_011522381.2:c.3642-109_3642-108dup	XP_011520683.1:n.3642-109_3642-108dup
XM_017022944.1:c.4389-109_4389-108dup	XP_016878433.1:n.4389-109_4389-108dup
NM_004380.3:c.4395-109_4395-108dup MANE Select	NP_004371.2:n.4395-109_4395-108dup