Canonical Allele Identifier: CA720709847

Gene: CREBBP

Linked Data

• dbSNP Id: rs1455799788
• gnomAD v3: 16-3777397-GCTT-G
• gnomAD v4: 16-3777397-GCTT-G
• MyVariant Identifiers: chr16:g.3827399_3827401del (hg19) ; chr16:g.3777398_3777400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777401_3777403del , CM000678.2:g.3777401_3777403del	GRCh38
NC_000016.9:g.3827402_3827404del , CM000678.1:g.3827402_3827404del	GRCh37
NC_000016.8:g.3767403_3767405del	NCBI36
NG_009873.1:g.107721_107723del
NG_009873.2:g.108314_108316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+213_2158+215del MANE Select	ENSP00000262367.5:n.2158+213_2158+215del
ENST00000262367.9:c.2158+213_2158+215del	ENSP00000262367.5:n.2158+213_2158+215del
ENST00000382070.7:c.2044+213_2044+215del	ENSP00000371502.3:n.2044+213_2044+215del
ENST00000570939.2:c.763+213_763+215del	ENSP00000461002.2:n.763+213_763+215del
ENST00000571826.5:c.207+213_207+215del
ENST00000572134.1:c.426+611_426+613del
NM_001079846.1:c.2044+213_2044+215del	NP_001073315.1:n.2044+213_2044+215del
NM_004380.2:c.2158+213_2158+215del	NP_004371.2:n.2158+213_2158+215del
XM_005255124.3:c.2113+611_2113+613del	XP_005255181.1:n.2113+611_2113+613del
XM_005255125.3:c.2158+213_2158+215del	XP_005255182.1:n.2158+213_2158+215del
XM_006720848.2:c.2158+213_2158+215del	XP_006720911.1:n.2158+213_2158+215del
XM_011522380.1:c.2104+213_2104+215del	XP_011520682.1:n.2104+213_2104+215del
XM_011522381.1:c.1405+213_1405+215del	XP_011520683.1:n.1405+213_1405+215del
XM_011522382.1:c.2158+213_2158+215del	XP_011520684.1:n.2158+213_2158+215del
XM_005255124.4:c.2113+611_2113+613del	XP_005255181.1:n.2113+611_2113+613del
XM_005255125.4:c.2158+213_2158+215del	XP_005255182.1:n.2158+213_2158+215del
XM_006720848.3:c.2158+213_2158+215del	XP_006720911.1:n.2158+213_2158+215del
XM_011522381.2:c.1405+213_1405+215del	XP_011520683.1:n.1405+213_1405+215del
XM_011522382.3:c.2158+213_2158+215del	XP_011520684.1:n.2158+213_2158+215del
XM_017022944.1:c.2158+213_2158+215del	XP_016878433.1:n.2158+213_2158+215del
NM_004380.3:c.2158+213_2158+215del MANE Select	NP_004371.2:n.2158+213_2158+215del