Canonical Allele Identifier: CA919643121

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805123

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736444_3736445insTC , CM000678.2:g.3736444_3736445insTC	GRCh38
NC_000016.9:g.3786445_3786446insTC , CM000678.1:g.3786445_3786446insTC	GRCh37
NC_000016.8:g.3726446_3726447insTC	NCBI36
NG_009873.1:g.148676_148677insGA
NG_009873.2:g.149269_149270insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+205_4560+206insGA MANE Select	ENSP00000262367.5:n.4560+205_4560+206insGA
ENST00000262367.9:c.4560+205_4560+206insGA	ENSP00000262367.5:n.4560+205_4560+206insGA
ENST00000382070.7:c.4446+205_4446+206insGA	ENSP00000371502.3:n.4446+205_4446+206insGA
ENST00000570939.2:c.3195+205_3195+206insGA	ENSP00000461002.2:n.3195+205_3195+206insGA
ENST00000571763.5:n.350+205_350+206insGA
ENST00000576720.1:n.3383+205_3383+206insGA
NM_001079846.1:c.4446+205_4446+206insGA	NP_001073315.1:n.4446+205_4446+206insGA
NM_004380.2:c.4560+205_4560+206insGA	NP_004371.2:n.4560+205_4560+206insGA
XM_005255124.3:c.4515+205_4515+206insGA	XP_005255181.1:n.4515+205_4515+206insGA
XM_005255125.3:c.4143+205_4143+206insGA	XP_005255182.1:n.4143+205_4143+206insGA
XM_006720848.2:c.4299+205_4299+206insGA	XP_006720911.1:n.4299+205_4299+206insGA
XM_011522380.1:c.4506+205_4506+206insGA	XP_011520682.1:n.4506+205_4506+206insGA
XM_011522381.1:c.3807+205_3807+206insGA	XP_011520683.1:n.3807+205_3807+206insGA
XM_005255124.4:c.4515+205_4515+206insGA	XP_005255181.1:n.4515+205_4515+206insGA
XM_005255125.4:c.4143+205_4143+206insGA	XP_005255182.1:n.4143+205_4143+206insGA
XM_006720848.3:c.4299+205_4299+206insGA	XP_006720911.1:n.4299+205_4299+206insGA
XM_011522381.2:c.3807+205_3807+206insGA	XP_011520683.1:n.3807+205_3807+206insGA
XM_017022944.1:c.4554+205_4554+206insGA	XP_016878433.1:n.4554+205_4554+206insGA
NM_004380.3:c.4560+205_4560+206insGA MANE Select	NP_004371.2:n.4560+205_4560+206insGA