Canonical Allele Identifier: CA720725169

Gene: CREBBP

Linked Data

• dbSNP Id: rs1283337977
• gnomAD v3: 16-3736557-T-TAA
• gnomAD v4: 16-3736557-T-TAA
• MyVariant Identifiers: chr16:g.3786558_3786559insAA (hg19) ; chr16:g.3736557_3736558insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736558_3736559dup , CM000678.2:g.3736558_3736559dup	GRCh38
NC_000016.9:g.3786559_3786560dup , CM000678.1:g.3786559_3786560dup	GRCh37
NC_000016.8:g.3726560_3726561dup	NCBI36
NG_009873.1:g.148562_148563dup
NG_009873.2:g.149155_149156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+91_4560+92dup MANE Select	ENSP00000262367.5:n.4560+91_4560+92dup
ENST00000262367.9:c.4560+91_4560+92dup	ENSP00000262367.5:n.4560+91_4560+92dup
ENST00000382070.7:c.4446+91_4446+92dup	ENSP00000371502.3:n.4446+91_4446+92dup
ENST00000570939.2:c.3195+91_3195+92dup	ENSP00000461002.2:n.3195+91_3195+92dup
ENST00000571763.5:n.350+91_350+92dup
ENST00000574740.1:n.472_473dup
ENST00000576720.1:n.3383+91_3383+92dup
NM_001079846.1:c.4446+91_4446+92dup	NP_001073315.1:n.4446+91_4446+92dup
NM_004380.2:c.4560+91_4560+92dup	NP_004371.2:n.4560+91_4560+92dup
XM_005255124.3:c.4515+91_4515+92dup	XP_005255181.1:n.4515+91_4515+92dup
XM_005255125.3:c.4143+91_4143+92dup	XP_005255182.1:n.4143+91_4143+92dup
XM_006720848.2:c.4299+91_4299+92dup	XP_006720911.1:n.4299+91_4299+92dup
XM_011522380.1:c.4506+91_4506+92dup	XP_011520682.1:n.4506+91_4506+92dup
XM_011522381.1:c.3807+91_3807+92dup	XP_011520683.1:n.3807+91_3807+92dup
XM_005255124.4:c.4515+91_4515+92dup	XP_005255181.1:n.4515+91_4515+92dup
XM_005255125.4:c.4143+91_4143+92dup	XP_005255182.1:n.4143+91_4143+92dup
XM_006720848.3:c.4299+91_4299+92dup	XP_006720911.1:n.4299+91_4299+92dup
XM_011522381.2:c.3807+91_3807+92dup	XP_011520683.1:n.3807+91_3807+92dup
XM_017022944.1:c.4554+91_4554+92dup	XP_016878433.1:n.4554+91_4554+92dup
NM_004380.3:c.4560+91_4560+92dup MANE Select	NP_004371.2:n.4560+91_4560+92dup