Canonical Allele Identifier: CA720725186

Gene: CREBBP

Linked Data

• dbSNP Id: rs1283257020
• gnomAD v3: 16-3736567-GT-G
• gnomAD v4: 16-3736567-GT-G
• MyVariant Identifiers: chr16:g.3786569del (hg19) ; chr16:g.3736568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736568del , CM000678.2:g.3736568del	GRCh38
NC_000016.9:g.3786569del , CM000678.1:g.3786569del	GRCh37
NC_000016.8:g.3726570del	NCBI36
NG_009873.1:g.148553del
NG_009873.2:g.149146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+82del MANE Select	ENSP00000262367.5:n.4560+82del
ENST00000262367.9:c.4560+82del	ENSP00000262367.5:n.4560+82del
ENST00000382070.7:c.4446+82del	ENSP00000371502.3:n.4446+82del
ENST00000570939.2:c.3195+82del	ENSP00000461002.2:n.3195+82del
ENST00000571763.5:n.350+82del
ENST00000574740.1:n.463del
ENST00000576720.1:n.3383+82del
NM_001079846.1:c.4446+82del	NP_001073315.1:n.4446+82del
NM_004380.2:c.4560+82del	NP_004371.2:n.4560+82del
XM_005255124.3:c.4515+82del	XP_005255181.1:n.4515+82del
XM_005255125.3:c.4143+82del	XP_005255182.1:n.4143+82del
XM_006720848.2:c.4299+82del	XP_006720911.1:n.4299+82del
XM_011522380.1:c.4506+82del	XP_011520682.1:n.4506+82del
XM_011522381.1:c.3807+82del	XP_011520683.1:n.3807+82del
XM_005255124.4:c.4515+82del	XP_005255181.1:n.4515+82del
XM_005255125.4:c.4143+82del	XP_005255182.1:n.4143+82del
XM_006720848.3:c.4299+82del	XP_006720911.1:n.4299+82del
XM_011522381.2:c.3807+82del	XP_011520683.1:n.3807+82del
XM_017022944.1:c.4554+82del	XP_016878433.1:n.4554+82del
NM_004380.3:c.4560+82del MANE Select	NP_004371.2:n.4560+82del