Canonical Allele Identifier: CA919643122

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805129

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736445_3736446insGACGGCT , CM000678.2:g.3736445_3736446insGACGGCT	GRCh38
NC_000016.9:g.3786446_3786447insGACGGCT , CM000678.1:g.3786446_3786447insGACGGCT	GRCh37
NC_000016.8:g.3726447_3726448insGACGGCT	NCBI36
NG_009873.1:g.148675_148676insAGCCGTC
NG_009873.2:g.149268_149269insAGCCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+204_4560+205insAGCCGTC MANE Select	ENSP00000262367.5:n.4560+204_4560+205insAGCCGTC
ENST00000262367.9:c.4560+204_4560+205insAGCCGTC	ENSP00000262367.5:n.4560+204_4560+205insAGCCGTC
ENST00000382070.7:c.4446+204_4446+205insAGCCGTC	ENSP00000371502.3:n.4446+204_4446+205insAGCCGTC
ENST00000570939.2:c.3195+204_3195+205insAGCCGTC	ENSP00000461002.2:n.3195+204_3195+205insAGCCGTC
ENST00000571763.5:n.350+204_350+205insAGCCGTC
ENST00000576720.1:n.3383+204_3383+205insAGCCGTC
NM_001079846.1:c.4446+204_4446+205insAGCCGTC	NP_001073315.1:n.4446+204_4446+205insAGCCGTC
NM_004380.2:c.4560+204_4560+205insAGCCGTC	NP_004371.2:n.4560+204_4560+205insAGCCGTC
XM_005255124.3:c.4515+204_4515+205insAGCCGTC	XP_005255181.1:n.4515+204_4515+205insAGCCGTC
XM_005255125.3:c.4143+204_4143+205insAGCCGTC	XP_005255182.1:n.4143+204_4143+205insAGCCGTC
XM_006720848.2:c.4299+204_4299+205insAGCCGTC	XP_006720911.1:n.4299+204_4299+205insAGCCGTC
XM_011522380.1:c.4506+204_4506+205insAGCCGTC	XP_011520682.1:n.4506+204_4506+205insAGCCGTC
XM_011522381.1:c.3807+204_3807+205insAGCCGTC	XP_011520683.1:n.3807+204_3807+205insAGCCGTC
XM_005255124.4:c.4515+204_4515+205insAGCCGTC	XP_005255181.1:n.4515+204_4515+205insAGCCGTC
XM_005255125.4:c.4143+204_4143+205insAGCCGTC	XP_005255182.1:n.4143+204_4143+205insAGCCGTC
XM_006720848.3:c.4299+204_4299+205insAGCCGTC	XP_006720911.1:n.4299+204_4299+205insAGCCGTC
XM_011522381.2:c.3807+204_3807+205insAGCCGTC	XP_011520683.1:n.3807+204_3807+205insAGCCGTC
XM_017022944.1:c.4554+204_4554+205insAGCCGTC	XP_016878433.1:n.4554+204_4554+205insAGCCGTC
NM_004380.3:c.4560+204_4560+205insAGCCGTC MANE Select	NP_004371.2:n.4560+204_4560+205insAGCCGTC