Canonical Allele Identifier: CA276986260

Gene: CREBBP

Linked Data

• dbSNP Id: rs756302796
• gnomAD v3: 16-3793146-AAGC-A
• gnomAD v4: 16-3793146-AAGC-A
• MyVariant Identifiers: chr16:g.3843148_3843150del (hg19) ; chr16:g.3793147_3793149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3793152_3793154del , CM000678.2:g.3793152_3793154del	GRCh38
NC_000016.9:g.3843153_3843155del , CM000678.1:g.3843153_3843155del	GRCh37
NC_000016.8:g.3783154_3783156del	NCBI36
NG_009873.1:g.91972_91974del
NG_009873.2:g.92565_92567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1216+237_1216+239del MANE Select	ENSP00000262367.5:n.1216+237_1216+239del
ENST00000262367.9:c.1216+237_1216+239del	ENSP00000262367.5:n.1216+237_1216+239del
ENST00000382070.7:c.1216+237_1216+239del	ENSP00000371502.3:n.1216+237_1216+239del
NM_001079846.1:c.1216+237_1216+239del	NP_001073315.1:n.1216+237_1216+239del
NM_004380.2:c.1216+237_1216+239del	NP_004371.2:n.1216+237_1216+239del
XM_005255124.3:c.1216+237_1216+239del	XP_005255181.1:n.1216+237_1216+239del
XM_005255125.3:c.1216+237_1216+239del	XP_005255182.1:n.1216+237_1216+239del
XM_006720848.2:c.1216+237_1216+239del	XP_006720911.1:n.1216+237_1216+239del
XM_011522380.1:c.1162+237_1162+239del	XP_011520682.1:n.1162+237_1162+239del
XM_011522381.1:c.463+237_463+239del	XP_011520683.1:n.463+237_463+239del
XM_011522382.1:c.1216+237_1216+239del	XP_011520684.1:n.1216+237_1216+239del
XM_005255124.4:c.1216+237_1216+239del	XP_005255181.1:n.1216+237_1216+239del
XM_005255125.4:c.1216+237_1216+239del	XP_005255182.1:n.1216+237_1216+239del
XM_006720848.3:c.1216+237_1216+239del	XP_006720911.1:n.1216+237_1216+239del
XM_011522381.2:c.463+237_463+239del	XP_011520683.1:n.463+237_463+239del
XM_011522382.3:c.1216+237_1216+239del	XP_011520684.1:n.1216+237_1216+239del
XM_017022944.1:c.1216+237_1216+239del	XP_016878433.1:n.1216+237_1216+239del
NM_004380.3:c.1216+237_1216+239del MANE Select	NP_004371.2:n.1216+237_1216+239del