Canonical Allele Identifier: CA2580613412

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2575956
• ClinVar RCV Id: RCV003322017

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778040del , CM000678.2:g.3778040del	GRCh38
NC_000016.9:g.3828041del , CM000678.1:g.3828041del	GRCh37
NC_000016.8:g.3768042del	NCBI36
NG_009873.1:g.107082del
NG_009873.2:g.107675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2085del MANE Select	ENSP00000262367.5:p.Pro696HisfsTer6
ENST00000262367.9:c.2085del	ENSP00000262367.5:p.Pro696HisfsTer6
ENST00000382070.7:c.1971del	ENSP00000371502.3:p.Pro658HisfsTer6
ENST00000570939.2:c.690del	ENSP00000461002.2:p.Pro231HisfsTer6
ENST00000571826.5:c.134del
ENST00000572134.1:c.398del
ENST00000634839.1:n.247del
NM_001079846.1:c.1971del	NP_001073315.1:p.Pro658HisfsTer6
NM_004380.2:c.2085del	NP_004371.2:p.Pro696HisfsTer6
XM_005255124.3:c.2085del	XP_005255181.1:p.Pro696HisfsTer6
XM_005255125.3:c.2085del	XP_005255182.1:p.Pro696HisfsTer6
XM_006720848.2:c.2085del	XP_006720911.1:p.Pro696HisfsTer6
XM_011522380.1:c.2031del	XP_011520682.1:p.Pro678HisfsTer6
XM_011522381.1:c.1332del	XP_011520683.1:p.Pro445HisfsTer6
XM_011522382.1:c.2085del	XP_011520684.1:p.Pro696HisfsTer6
XM_005255124.4:c.2085del	XP_005255181.1:p.Pro696HisfsTer6
XM_005255125.4:c.2085del	XP_005255182.1:p.Pro696HisfsTer6
XM_006720848.3:c.2085del	XP_006720911.1:p.Pro696HisfsTer6
XM_011522381.2:c.1332del	XP_011520683.1:p.Pro445HisfsTer6
XM_011522382.3:c.2085del	XP_011520684.1:p.Pro696HisfsTer6
XM_017022944.1:c.2085del	XP_016878433.1:p.Pro696HisfsTer6
NM_004380.3:c.2085del MANE Select	NP_004371.2:p.Pro696HisfsTer6