Canonical Allele Identifier: CA973906809

Gene: CREBBP

Linked Data

• gnomAD v3: 16-3736292-T-TCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCC
• gnomAD v4: 16-3736292-T-TCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736294_3736331dup , CM000678.2:g.3736294_3736331dup	GRCh38
NC_000016.9:g.3786295_3786332dup , CM000678.1:g.3786295_3786332dup	GRCh37
NC_000016.8:g.3726296_3726333dup	NCBI36
NG_009873.1:g.148791_148828dup
NG_009873.2:g.149384_149421dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-127_4561-90dup MANE Select	ENSP00000262367.5:n.4561-127_4561-90dup
ENST00000262367.9:c.4561-127_4561-90dup	ENSP00000262367.5:n.4561-127_4561-90dup
ENST00000382070.7:c.4447-127_4447-90dup	ENSP00000371502.3:n.4447-127_4447-90dup
ENST00000570939.2:c.3196-127_3196-90dup	ENSP00000461002.2:n.3196-127_3196-90dup
ENST00000571763.5:n.351-127_351-90dup
ENST00000576720.1:n.3384-127_3384-90dup
NM_001079846.1:c.4447-127_4447-90dup	NP_001073315.1:n.4447-127_4447-90dup
NM_004380.2:c.4561-127_4561-90dup	NP_004371.2:n.4561-127_4561-90dup
XM_005255124.3:c.4516-127_4516-90dup	XP_005255181.1:n.4516-127_4516-90dup
XM_005255125.3:c.4144-127_4144-90dup	XP_005255182.1:n.4144-127_4144-90dup
XM_006720848.2:c.4300-127_4300-90dup	XP_006720911.1:n.4300-127_4300-90dup
XM_011522380.1:c.4507-127_4507-90dup	XP_011520682.1:n.4507-127_4507-90dup
XM_011522381.1:c.3808-127_3808-90dup	XP_011520683.1:n.3808-127_3808-90dup
XM_005255124.4:c.4516-127_4516-90dup	XP_005255181.1:n.4516-127_4516-90dup
XM_005255125.4:c.4144-127_4144-90dup	XP_005255182.1:n.4144-127_4144-90dup
XM_006720848.3:c.4300-127_4300-90dup	XP_006720911.1:n.4300-127_4300-90dup
XM_011522381.2:c.3808-127_3808-90dup	XP_011520683.1:n.3808-127_3808-90dup
XM_017022944.1:c.4555-127_4555-90dup	XP_016878433.1:n.4555-127_4555-90dup
NM_004380.3:c.4561-127_4561-90dup MANE Select	NP_004371.2:n.4561-127_4561-90dup