Canonical Allele Identifier: CA2631401594

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736639-G-GCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736640_3736643dup , CM000678.2:g.3736640_3736643dup	GRCh38
NC_000016.9:g.3786641_3786644dup , CM000678.1:g.3786641_3786644dup	GRCh37
NC_000016.8:g.3726642_3726645dup	NCBI36
NG_009873.1:g.148478_148481dup
NG_009873.2:g.149071_149074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+7_4560+10dup MANE Select	ENSP00000262367.5:n.4560+7_4560+10dup
ENST00000262367.9:c.4560+7_4560+10dup	ENSP00000262367.5:n.4560+7_4560+10dup
ENST00000382070.7:c.4446+7_4446+10dup	ENSP00000371502.3:n.4446+7_4446+10dup
ENST00000570939.2:c.3195+7_3195+10dup	ENSP00000461002.2:n.3195+7_3195+10dup
ENST00000571763.5:n.350+7_350+10dup
ENST00000574740.1:n.388_391dup
ENST00000576720.1:n.3383+7_3383+10dup
NM_001079846.1:c.4446+7_4446+10dup	NP_001073315.1:n.4446+7_4446+10dup
NM_004380.2:c.4560+7_4560+10dup	NP_004371.2:n.4560+7_4560+10dup
XM_005255124.3:c.4515+7_4515+10dup	XP_005255181.1:n.4515+7_4515+10dup
XM_005255125.3:c.4143+7_4143+10dup	XP_005255182.1:n.4143+7_4143+10dup
XM_006720848.2:c.4299+7_4299+10dup	XP_006720911.1:n.4299+7_4299+10dup
XM_011522380.1:c.4506+7_4506+10dup	XP_011520682.1:n.4506+7_4506+10dup
XM_011522381.1:c.3807+7_3807+10dup	XP_011520683.1:n.3807+7_3807+10dup
XM_005255124.4:c.4515+7_4515+10dup	XP_005255181.1:n.4515+7_4515+10dup
XM_005255125.4:c.4143+7_4143+10dup	XP_005255182.1:n.4143+7_4143+10dup
XM_006720848.3:c.4299+7_4299+10dup	XP_006720911.1:n.4299+7_4299+10dup
XM_011522381.2:c.3807+7_3807+10dup	XP_011520683.1:n.3807+7_3807+10dup
XM_017022944.1:c.4554+7_4554+10dup	XP_016878433.1:n.4554+7_4554+10dup
NM_004380.3:c.4560+7_4560+10dup MANE Select	NP_004371.2:n.4560+7_4560+10dup