Canonical Allele Identifier: CA620714543

Gene: CREBBP

Linked Data

• dbSNP Id: rs1157483155
• gnomAD v2: 16-3786335-CCA-C
• gnomAD v3: 16-3736334-CCA-C
• gnomAD v4: 16-3736334-CCA-C
• MyVariant Identifiers: chr16:g.3786336_3786337del (hg19) ; chr16:g.3736335_3736336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736337_3736338del , CM000678.2:g.3736337_3736338del	GRCh38
NC_000016.9:g.3786338_3786339del , CM000678.1:g.3786338_3786339del	GRCh37
NC_000016.8:g.3726339_3726340del	NCBI36
NG_009873.1:g.148785_148786del
NG_009873.2:g.149378_149379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-133_4561-132del MANE Select	ENSP00000262367.5:n.4561-133_4561-132del
ENST00000262367.9:c.4561-133_4561-132del	ENSP00000262367.5:n.4561-133_4561-132del
ENST00000382070.7:c.4447-133_4447-132del	ENSP00000371502.3:n.4447-133_4447-132del
ENST00000570939.2:c.3196-133_3196-132del	ENSP00000461002.2:n.3196-133_3196-132del
ENST00000571763.5:n.351-133_351-132del
ENST00000576720.1:n.3384-133_3384-132del
NM_001079846.1:c.4447-133_4447-132del	NP_001073315.1:n.4447-133_4447-132del
NM_004380.2:c.4561-133_4561-132del	NP_004371.2:n.4561-133_4561-132del
XM_005255124.3:c.4516-133_4516-132del	XP_005255181.1:n.4516-133_4516-132del
XM_005255125.3:c.4144-133_4144-132del	XP_005255182.1:n.4144-133_4144-132del
XM_006720848.2:c.4300-133_4300-132del	XP_006720911.1:n.4300-133_4300-132del
XM_011522380.1:c.4507-133_4507-132del	XP_011520682.1:n.4507-133_4507-132del
XM_011522381.1:c.3808-133_3808-132del	XP_011520683.1:n.3808-133_3808-132del
XM_005255124.4:c.4516-133_4516-132del	XP_005255181.1:n.4516-133_4516-132del
XM_005255125.4:c.4144-133_4144-132del	XP_005255182.1:n.4144-133_4144-132del
XM_006720848.3:c.4300-133_4300-132del	XP_006720911.1:n.4300-133_4300-132del
XM_011522381.2:c.3808-133_3808-132del	XP_011520683.1:n.3808-133_3808-132del
XM_017022944.1:c.4555-133_4555-132del	XP_016878433.1:n.4555-133_4555-132del
NM_004380.3:c.4561-133_4561-132del MANE Select	NP_004371.2:n.4561-133_4561-132del