Canonical Allele Identifier: CA2631401387

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736436-A-ACAGCTCCAACTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736437_3736449dup , CM000678.2:g.3736437_3736449dup	GRCh38
NC_000016.9:g.3786438_3786450dup , CM000678.1:g.3786438_3786450dup	GRCh37
NC_000016.8:g.3726439_3726451dup	NCBI36
NG_009873.1:g.148672_148684dup
NG_009873.2:g.149265_149277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+201_4560+213dup MANE Select	ENSP00000262367.5:n.4560+201_4560+213dup
ENST00000262367.9:c.4560+201_4560+213dup	ENSP00000262367.5:n.4560+201_4560+213dup
ENST00000382070.7:c.4446+201_4446+213dup	ENSP00000371502.3:n.4446+201_4446+213dup
ENST00000570939.2:c.3195+201_3195+213dup	ENSP00000461002.2:n.3195+201_3195+213dup
ENST00000571763.5:n.350+201_350+213dup
ENST00000576720.1:n.3383+201_3383+213dup
NM_001079846.1:c.4446+201_4446+213dup	NP_001073315.1:n.4446+201_4446+213dup
NM_004380.2:c.4560+201_4560+213dup	NP_004371.2:n.4560+201_4560+213dup
XM_005255124.3:c.4515+201_4515+213dup	XP_005255181.1:n.4515+201_4515+213dup
XM_005255125.3:c.4143+201_4143+213dup	XP_005255182.1:n.4143+201_4143+213dup
XM_006720848.2:c.4299+201_4299+213dup	XP_006720911.1:n.4299+201_4299+213dup
XM_011522380.1:c.4506+201_4506+213dup	XP_011520682.1:n.4506+201_4506+213dup
XM_011522381.1:c.3807+201_3807+213dup	XP_011520683.1:n.3807+201_3807+213dup
XM_005255124.4:c.4515+201_4515+213dup	XP_005255181.1:n.4515+201_4515+213dup
XM_005255125.4:c.4143+201_4143+213dup	XP_005255182.1:n.4143+201_4143+213dup
XM_006720848.3:c.4299+201_4299+213dup	XP_006720911.1:n.4299+201_4299+213dup
XM_011522381.2:c.3807+201_3807+213dup	XP_011520683.1:n.3807+201_3807+213dup
XM_017022944.1:c.4554+201_4554+213dup	XP_016878433.1:n.4554+201_4554+213dup
NM_004380.3:c.4560+201_4560+213dup MANE Select	NP_004371.2:n.4560+201_4560+213dup