Canonical Allele Identifier: CA276979762

Gene: CREBBP

Linked Data

• dbSNP Id: rs529264128
• gnomAD v2: 16-3786326-G-GC
• gnomAD v3: 16-3736325-G-GC
• gnomAD v4: 16-3736325-G-GC
• MyVariant Identifiers: chr16:g.3786329_3786330insC (hg19) ; chr16:g.3786326_3786327insC (hg19) ; chr16:g.3736328_3736329insC (hg38) ; chr16:g.3736325_3736326insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736332dup , CM000678.2:g.3736332dup	GRCh38
NC_000016.9:g.3786333dup , CM000678.1:g.3786333dup	GRCh37
NC_000016.8:g.3726334dup	NCBI36
NG_009873.1:g.148795dup
NG_009873.2:g.149388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-123dup MANE Select	ENSP00000262367.5:n.4561-123dup
ENST00000262367.9:c.4561-123dup	ENSP00000262367.5:n.4561-123dup
ENST00000382070.7:c.4447-123dup	ENSP00000371502.3:n.4447-123dup
ENST00000570939.2:c.3196-123dup	ENSP00000461002.2:n.3196-123dup
ENST00000571763.5:n.351-123dup
ENST00000576720.1:n.3384-123dup
NM_001079846.1:c.4447-123dup	NP_001073315.1:n.4447-123dup
NM_004380.2:c.4561-123dup	NP_004371.2:n.4561-123dup
XM_005255124.3:c.4516-123dup	XP_005255181.1:n.4516-123dup
XM_005255125.3:c.4144-123dup	XP_005255182.1:n.4144-123dup
XM_006720848.2:c.4300-123dup	XP_006720911.1:n.4300-123dup
XM_011522380.1:c.4507-123dup	XP_011520682.1:n.4507-123dup
XM_011522381.1:c.3808-123dup	XP_011520683.1:n.3808-123dup
XM_005255124.4:c.4516-123dup	XP_005255181.1:n.4516-123dup
XM_005255125.4:c.4144-123dup	XP_005255182.1:n.4144-123dup
XM_006720848.3:c.4300-123dup	XP_006720911.1:n.4300-123dup
XM_011522381.2:c.3808-123dup	XP_011520683.1:n.3808-123dup
XM_017022944.1:c.4555-123dup	XP_016878433.1:n.4555-123dup
NM_004380.3:c.4561-123dup MANE Select	NP_004371.2:n.4561-123dup