Canonical Allele Identifier: CA620714540

Gene: CREBBP

Linked Data

• dbSNP Id: rs1422469060
• gnomAD v2: 16-3786327-CCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCA-C
• gnomAD v3: 16-3736326-CCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCA-C
• gnomAD v4: 16-3736326-CCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCA-C
• MyVariant Identifiers: chr16:g.3786328_3786365del (hg19) ; chr16:g.3736327_3736364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736343_3736380del , CM000678.2:g.3736343_3736380del	GRCh38
NC_000016.9:g.3786344_3786381del , CM000678.1:g.3786344_3786381del	GRCh37
NC_000016.8:g.3726345_3726382del	NCBI36
NG_009873.1:g.148757_148794del
NG_009873.2:g.149350_149387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-161_4561-124del MANE Select	ENSP00000262367.5:n.4561-161_4561-124del
ENST00000262367.9:c.4561-161_4561-124del	ENSP00000262367.5:n.4561-161_4561-124del
ENST00000382070.7:c.4447-161_4447-124del	ENSP00000371502.3:n.4447-161_4447-124del
ENST00000570939.2:c.3196-161_3196-124del	ENSP00000461002.2:n.3196-161_3196-124del
ENST00000571763.5:n.351-161_351-124del
ENST00000576720.1:n.3384-161_3384-124del
NM_001079846.1:c.4447-161_4447-124del	NP_001073315.1:n.4447-161_4447-124del
NM_004380.2:c.4561-161_4561-124del	NP_004371.2:n.4561-161_4561-124del
XM_005255124.3:c.4516-161_4516-124del	XP_005255181.1:n.4516-161_4516-124del
XM_005255125.3:c.4144-161_4144-124del	XP_005255182.1:n.4144-161_4144-124del
XM_006720848.2:c.4300-161_4300-124del	XP_006720911.1:n.4300-161_4300-124del
XM_011522380.1:c.4507-161_4507-124del	XP_011520682.1:n.4507-161_4507-124del
XM_011522381.1:c.3808-161_3808-124del	XP_011520683.1:n.3808-161_3808-124del
XM_005255124.4:c.4516-161_4516-124del	XP_005255181.1:n.4516-161_4516-124del
XM_005255125.4:c.4144-161_4144-124del	XP_005255182.1:n.4144-161_4144-124del
XM_006720848.3:c.4300-161_4300-124del	XP_006720911.1:n.4300-161_4300-124del
XM_011522381.2:c.3808-161_3808-124del	XP_011520683.1:n.3808-161_3808-124del
XM_017022944.1:c.4555-161_4555-124del	XP_016878433.1:n.4555-161_4555-124del
NM_004380.3:c.4561-161_4561-124del MANE Select	NP_004371.2:n.4561-161_4561-124del