Canonical Allele Identifier: CA720722784

Gene: CREBBP

Linked Data

• dbSNP Id: rs1330285291
• MyVariant Identifiers: chr16:g.3843310_3843311insA (hg19) ; chr16:g.3793309_3793310insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3793310dup , CM000678.2:g.3793310dup	GRCh38
NC_000016.9:g.3843311dup , CM000678.1:g.3843311dup	GRCh37
NC_000016.8:g.3783312dup	NCBI36
NG_009873.1:g.91811dup
NG_009873.2:g.92404dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1216+76dup MANE Select	ENSP00000262367.5:n.1216+76dup
ENST00000262367.9:c.1216+76dup	ENSP00000262367.5:n.1216+76dup
ENST00000382070.7:c.1216+76dup	ENSP00000371502.3:n.1216+76dup
NM_001079846.1:c.1216+76dup	NP_001073315.1:n.1216+76dup
NM_004380.2:c.1216+76dup	NP_004371.2:n.1216+76dup
XM_005255124.3:c.1216+76dup	XP_005255181.1:n.1216+76dup
XM_005255125.3:c.1216+76dup	XP_005255182.1:n.1216+76dup
XM_006720848.2:c.1216+76dup	XP_006720911.1:n.1216+76dup
XM_011522380.1:c.1162+76dup	XP_011520682.1:n.1162+76dup
XM_011522381.1:c.463+76dup	XP_011520683.1:n.463+76dup
XM_011522382.1:c.1216+76dup	XP_011520684.1:n.1216+76dup
XM_005255124.4:c.1216+76dup	XP_005255181.1:n.1216+76dup
XM_005255125.4:c.1216+76dup	XP_005255182.1:n.1216+76dup
XM_006720848.3:c.1216+76dup	XP_006720911.1:n.1216+76dup
XM_011522381.2:c.463+76dup	XP_011520683.1:n.463+76dup
XM_011522382.3:c.1216+76dup	XP_011520684.1:n.1216+76dup
XM_017022944.1:c.1216+76dup	XP_016878433.1:n.1216+76dup
NM_004380.3:c.1216+76dup MANE Select	NP_004371.2:n.1216+76dup