Canonical Allele Identifier: CA2631401243

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736315-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736316_3736317del , CM000678.2:g.3736316_3736317del	GRCh38
NC_000016.9:g.3786317_3786318del , CM000678.1:g.3786317_3786318del	GRCh37
NC_000016.8:g.3726318_3726319del	NCBI36
NG_009873.1:g.148804_148805del
NG_009873.2:g.149397_149398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-114_4561-113del MANE Select	ENSP00000262367.5:n.4561-114_4561-113del
ENST00000262367.9:c.4561-114_4561-113del	ENSP00000262367.5:n.4561-114_4561-113del
ENST00000382070.7:c.4447-114_4447-113del	ENSP00000371502.3:n.4447-114_4447-113del
ENST00000570939.2:c.3196-114_3196-113del	ENSP00000461002.2:n.3196-114_3196-113del
ENST00000571763.5:n.351-114_351-113del
ENST00000576720.1:n.3384-114_3384-113del
NM_001079846.1:c.4447-114_4447-113del	NP_001073315.1:n.4447-114_4447-113del
NM_004380.2:c.4561-114_4561-113del	NP_004371.2:n.4561-114_4561-113del
XM_005255124.3:c.4516-114_4516-113del	XP_005255181.1:n.4516-114_4516-113del
XM_005255125.3:c.4144-114_4144-113del	XP_005255182.1:n.4144-114_4144-113del
XM_006720848.2:c.4300-114_4300-113del	XP_006720911.1:n.4300-114_4300-113del
XM_011522380.1:c.4507-114_4507-113del	XP_011520682.1:n.4507-114_4507-113del
XM_011522381.1:c.3808-114_3808-113del	XP_011520683.1:n.3808-114_3808-113del
XM_005255124.4:c.4516-114_4516-113del	XP_005255181.1:n.4516-114_4516-113del
XM_005255125.4:c.4144-114_4144-113del	XP_005255182.1:n.4144-114_4144-113del
XM_006720848.3:c.4300-114_4300-113del	XP_006720911.1:n.4300-114_4300-113del
XM_011522381.2:c.3808-114_3808-113del	XP_011520683.1:n.3808-114_3808-113del
XM_017022944.1:c.4555-114_4555-113del	XP_016878433.1:n.4555-114_4555-113del
NM_004380.3:c.4561-114_4561-113del MANE Select	NP_004371.2:n.4561-114_4561-113del