Canonical Allele Identifier: CA2575894447

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791968_3791969insA , CM000678.2:g.3791968_3791969insA	GRCh38
NC_000016.9:g.3841969_3841970insA , CM000678.1:g.3841969_3841970insA	GRCh37
NC_000016.8:g.3781970_3781971insA	NCBI36
NG_009873.1:g.93152_93153insT
NG_009873.2:g.93745_93746insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.1330+12_1330+13insT MANE Select	ENSP00000262367.5:n.1330+12_1330+13insT
ENST00000262367.9:c.1330+12_1330+13insT	ENSP00000262367.5:n.1330+12_1330+13insT
ENST00000382070.7:c.1216+1417_1216+1418insT	ENSP00000371502.3:n.1216+1417_1216+1418in...
NM_001079846.1:c.1216+1417_1216+1418insT	NP_001073315.1:n.1216+1417_1216+1418insT
NM_004380.2:c.1330+12_1330+13insT	NP_004371.2:n.1330+12_1330+13insT
XM_005255124.3:c.1330+12_1330+13insT	XP_005255181.1:n.1330+12_1330+13insT
XM_005255125.3:c.1330+12_1330+13insT	XP_005255182.1:n.1330+12_1330+13insT
XM_006720848.2:c.1330+12_1330+13insT	XP_006720911.1:n.1330+12_1330+13insT
XM_011522380.1:c.1276+12_1276+13insT	XP_011520682.1:n.1276+12_1276+13insT
XM_011522381.1:c.577+12_577+13insT	XP_011520683.1:n.577+12_577+13insT
XM_011522382.1:c.1330+12_1330+13insT	XP_011520684.1:n.1330+12_1330+13insT
XM_005255124.4:c.1330+12_1330+13insT	XP_005255181.1:n.1330+12_1330+13insT
XM_005255125.4:c.1330+12_1330+13insT	XP_005255182.1:n.1330+12_1330+13insT
XM_006720848.3:c.1330+12_1330+13insT	XP_006720911.1:n.1330+12_1330+13insT
XM_011522381.2:c.577+12_577+13insT	XP_011520683.1:n.577+12_577+13insT
XM_011522382.3:c.1330+12_1330+13insT	XP_011520684.1:n.1330+12_1330+13insT
XM_017022944.1:c.1330+12_1330+13insT	XP_016878433.1:n.1330+12_1330+13insT
NM_004380.3:c.1330+12_1330+13insT MANE Select	NP_004371.2:n.1330+12_1330+13insT