Canonical Allele Identifier: CA915949069

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 666309
• ClinVar RCV Id: RCV000824846
• dbSNP Id: rs1596787459

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729564_3729566del , CM000678.2:g.3729564_3729566del	GRCh38
NC_000016.9:g.3779565_3779567del , CM000678.1:g.3779565_3779567del	GRCh37
NC_000016.8:g.3719566_3719568del	NCBI36
NG_009873.1:g.155556_155558del
NG_009873.2:g.156149_156151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5482_5484del MANE Select	ENSP00000262367.5:p.Tyr1828del
ENST00000262367.9:c.5482_5484del	ENSP00000262367.5:p.Tyr1828del
ENST00000382070.7:c.5368_5370del	ENSP00000371502.3:p.Tyr1790del
NM_001079846.1:c.5368_5370del	NP_001073315.1:p.Tyr1790del
NM_004380.2:c.5482_5484del	NP_004371.2:p.Tyr1828del
XM_005255124.3:c.5437_5439del	XP_005255181.1:p.Tyr1813del
XM_005255125.3:c.5065_5067del	XP_005255182.1:p.Tyr1689del
XM_006720848.2:c.5221_5223del	XP_006720911.1:p.Tyr1741del
XM_011522380.1:c.5428_5430del	XP_011520682.1:p.Tyr1810del
XM_011522381.1:c.4729_4731del	XP_011520683.1:p.Tyr1577del
XM_005255124.4:c.5437_5439del	XP_005255181.1:p.Tyr1813del
XM_005255125.4:c.5065_5067del	XP_005255182.1:p.Tyr1689del
XM_006720848.3:c.5221_5223del	XP_006720911.1:p.Tyr1741del
XM_011522381.2:c.4729_4731del	XP_011520683.1:p.Tyr1577del
XM_017022944.1:c.5476_5478del	XP_016878433.1:p.Tyr1826del
NM_004380.3:c.5482_5484del MANE Select	NP_004371.2:p.Tyr1828del