Canonical Allele Identifier: CA2202953496

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053515505

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791857_3791859dup , CM000678.2:g.3791857_3791859dup	GRCh38
NC_000016.9:g.3841858_3841860dup , CM000678.1:g.3841858_3841860dup	GRCh37
NC_000016.8:g.3781859_3781861dup	NCBI36
NG_009873.1:g.93264_93266dup
NG_009873.2:g.93857_93859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+124_1330+126dup MANE Select	ENSP00000262367.5:n.1330+124_1330+126dup
ENST00000262367.9:c.1330+124_1330+126dup	ENSP00000262367.5:n.1330+124_1330+126dup
ENST00000382070.7:c.1216+1529_1216+1531dup	ENSP00000371502.3:n.1216+1529_1216+1531dup
NM_001079846.1:c.1216+1529_1216+1531dup	NP_001073315.1:n.1216+1529_1216+1531dup
NM_004380.2:c.1330+124_1330+126dup	NP_004371.2:n.1330+124_1330+126dup
XM_005255124.3:c.1330+124_1330+126dup	XP_005255181.1:n.1330+124_1330+126dup
XM_005255125.3:c.1330+124_1330+126dup	XP_005255182.1:n.1330+124_1330+126dup
XM_006720848.2:c.1330+124_1330+126dup	XP_006720911.1:n.1330+124_1330+126dup
XM_011522380.1:c.1276+124_1276+126dup	XP_011520682.1:n.1276+124_1276+126dup
XM_011522381.1:c.577+124_577+126dup	XP_011520683.1:n.577+124_577+126dup
XM_011522382.1:c.1330+124_1330+126dup	XP_011520684.1:n.1330+124_1330+126dup
XM_005255124.4:c.1330+124_1330+126dup	XP_005255181.1:n.1330+124_1330+126dup
XM_005255125.4:c.1330+124_1330+126dup	XP_005255182.1:n.1330+124_1330+126dup
XM_006720848.3:c.1330+124_1330+126dup	XP_006720911.1:n.1330+124_1330+126dup
XM_011522381.2:c.577+124_577+126dup	XP_011520683.1:n.577+124_577+126dup
XM_011522382.3:c.1330+124_1330+126dup	XP_011520684.1:n.1330+124_1330+126dup
XM_017022944.1:c.1330+124_1330+126dup	XP_016878433.1:n.1330+124_1330+126dup
NM_004380.3:c.1330+124_1330+126dup MANE Select	NP_004371.2:n.1330+124_1330+126dup