Canonical Allele Identifier: CA720725070

Gene: CREBBP

Linked Data

• dbSNP Id: rs1379297437
• gnomAD v3: 16-3736399-AAC-A
• gnomAD v4: 16-3736399-AAC-A
• MyVariant Identifiers: chr16:g.3786401_3786402del (hg19) ; chr16:g.3736400_3736401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736401_3736402del , CM000678.2:g.3736401_3736402del	GRCh38
NC_000016.9:g.3786402_3786403del , CM000678.1:g.3786402_3786403del	GRCh37
NC_000016.8:g.3726403_3726404del	NCBI36
NG_009873.1:g.148720_148721del
NG_009873.2:g.149313_149314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-198_4561-197del MANE Select	ENSP00000262367.5:n.4561-198_4561-197del
ENST00000262367.9:c.4561-198_4561-197del	ENSP00000262367.5:n.4561-198_4561-197del
ENST00000382070.7:c.4447-198_4447-197del	ENSP00000371502.3:n.4447-198_4447-197del
ENST00000570939.2:c.3196-198_3196-197del	ENSP00000461002.2:n.3196-198_3196-197del
ENST00000571763.5:n.351-198_351-197del
ENST00000576720.1:n.3384-198_3384-197del
NM_001079846.1:c.4447-198_4447-197del	NP_001073315.1:n.4447-198_4447-197del
NM_004380.2:c.4561-198_4561-197del	NP_004371.2:n.4561-198_4561-197del
XM_005255124.3:c.4516-198_4516-197del	XP_005255181.1:n.4516-198_4516-197del
XM_005255125.3:c.4144-198_4144-197del	XP_005255182.1:n.4144-198_4144-197del
XM_006720848.2:c.4300-198_4300-197del	XP_006720911.1:n.4300-198_4300-197del
XM_011522380.1:c.4507-198_4507-197del	XP_011520682.1:n.4507-198_4507-197del
XM_011522381.1:c.3808-198_3808-197del	XP_011520683.1:n.3808-198_3808-197del
XM_005255124.4:c.4516-198_4516-197del	XP_005255181.1:n.4516-198_4516-197del
XM_005255125.4:c.4144-198_4144-197del	XP_005255182.1:n.4144-198_4144-197del
XM_006720848.3:c.4300-198_4300-197del	XP_006720911.1:n.4300-198_4300-197del
XM_011522381.2:c.3808-198_3808-197del	XP_011520683.1:n.3808-198_3808-197del
XM_017022944.1:c.4555-198_4555-197del	XP_016878433.1:n.4555-198_4555-197del
NM_004380.3:c.4561-198_4561-197del MANE Select	NP_004371.2:n.4561-198_4561-197del