Canonical Allele Identifier: CA2631401338

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736391-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736396_3736397del , CM000678.2:g.3736396_3736397del	GRCh38
NC_000016.9:g.3786397_3786398del , CM000678.1:g.3786397_3786398del	GRCh37
NC_000016.8:g.3726398_3726399del	NCBI36
NG_009873.1:g.148728_148729del
NG_009873.2:g.149321_149322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-190_4561-189del MANE Select	ENSP00000262367.5:n.4561-190_4561-189del
ENST00000262367.9:c.4561-190_4561-189del	ENSP00000262367.5:n.4561-190_4561-189del
ENST00000382070.7:c.4447-190_4447-189del	ENSP00000371502.3:n.4447-190_4447-189del
ENST00000570939.2:c.3196-190_3196-189del	ENSP00000461002.2:n.3196-190_3196-189del
ENST00000571763.5:n.351-190_351-189del
ENST00000576720.1:n.3384-190_3384-189del
NM_001079846.1:c.4447-190_4447-189del	NP_001073315.1:n.4447-190_4447-189del
NM_004380.2:c.4561-190_4561-189del	NP_004371.2:n.4561-190_4561-189del
XM_005255124.3:c.4516-190_4516-189del	XP_005255181.1:n.4516-190_4516-189del
XM_005255125.3:c.4144-190_4144-189del	XP_005255182.1:n.4144-190_4144-189del
XM_006720848.2:c.4300-190_4300-189del	XP_006720911.1:n.4300-190_4300-189del
XM_011522380.1:c.4507-190_4507-189del	XP_011520682.1:n.4507-190_4507-189del
XM_011522381.1:c.3808-190_3808-189del	XP_011520683.1:n.3808-190_3808-189del
XM_005255124.4:c.4516-190_4516-189del	XP_005255181.1:n.4516-190_4516-189del
XM_005255125.4:c.4144-190_4144-189del	XP_005255182.1:n.4144-190_4144-189del
XM_006720848.3:c.4300-190_4300-189del	XP_006720911.1:n.4300-190_4300-189del
XM_011522381.2:c.3808-190_3808-189del	XP_011520683.1:n.3808-190_3808-189del
XM_017022944.1:c.4555-190_4555-189del	XP_016878433.1:n.4555-190_4555-189del
NM_004380.3:c.4561-190_4561-189del MANE Select	NP_004371.2:n.4561-190_4561-189del