Canonical Allele Identifier: CA2202936320

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052064014
• gnomAD v4: 16-3736463-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736464_3736466dup , CM000678.2:g.3736464_3736466dup	GRCh38
NC_000016.9:g.3786465_3786467dup , CM000678.1:g.3786465_3786467dup	GRCh37
NC_000016.8:g.3726466_3726468dup	NCBI36
NG_009873.1:g.148655_148657dup
NG_009873.2:g.149248_149250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+184_4560+186dup MANE Select	ENSP00000262367.5:n.4560+184_4560+186dup
ENST00000262367.9:c.4560+184_4560+186dup	ENSP00000262367.5:n.4560+184_4560+186dup
ENST00000382070.7:c.4446+184_4446+186dup	ENSP00000371502.3:n.4446+184_4446+186dup
ENST00000570939.2:c.3195+184_3195+186dup	ENSP00000461002.2:n.3195+184_3195+186dup
ENST00000571763.5:n.350+184_350+186dup
ENST00000576720.1:n.3383+184_3383+186dup
NM_001079846.1:c.4446+184_4446+186dup	NP_001073315.1:n.4446+184_4446+186dup
NM_004380.2:c.4560+184_4560+186dup	NP_004371.2:n.4560+184_4560+186dup
XM_005255124.3:c.4515+184_4515+186dup	XP_005255181.1:n.4515+184_4515+186dup
XM_005255125.3:c.4143+184_4143+186dup	XP_005255182.1:n.4143+184_4143+186dup
XM_006720848.2:c.4299+184_4299+186dup	XP_006720911.1:n.4299+184_4299+186dup
XM_011522380.1:c.4506+184_4506+186dup	XP_011520682.1:n.4506+184_4506+186dup
XM_011522381.1:c.3807+184_3807+186dup	XP_011520683.1:n.3807+184_3807+186dup
XM_005255124.4:c.4515+184_4515+186dup	XP_005255181.1:n.4515+184_4515+186dup
XM_005255125.4:c.4143+184_4143+186dup	XP_005255182.1:n.4143+184_4143+186dup
XM_006720848.3:c.4299+184_4299+186dup	XP_006720911.1:n.4299+184_4299+186dup
XM_011522381.2:c.3807+184_3807+186dup	XP_011520683.1:n.3807+184_3807+186dup
XM_017022944.1:c.4554+184_4554+186dup	XP_016878433.1:n.4554+184_4554+186dup
NM_004380.3:c.4560+184_4560+186dup MANE Select	NP_004371.2:n.4560+184_4560+186dup