Canonical Allele Identifier: CA913190686

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 545602
• ClinVar RCV Id: RCV000754900
• dbSNP Id: rs1567316655

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792031_3792032del , CM000678.2:g.3792031_3792032del	GRCh38
NC_000016.9:g.3842032_3842033del , CM000678.1:g.3842032_3842033del	GRCh37
NC_000016.8:g.3782033_3782034del	NCBI36
NG_009873.1:g.93090_93091del
NG_009873.2:g.93683_93684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1280_1281del MANE Select	ENSP00000262367.5:p.Cys427SerfsTer11
ENST00000262367.9:c.1280_1281del	ENSP00000262367.5:p.Cys427SerfsTer11
ENST00000382070.7:c.1216+1355_1216+1356del	ENSP00000371502.3:n.1216+1355_1216+1356del
NM_001079846.1:c.1216+1355_1216+1356del	NP_001073315.1:n.1216+1355_1216+1356del
NM_004380.2:c.1280_1281del	NP_004371.2:p.Cys427SerfsTer11
XM_005255124.3:c.1280_1281del	XP_005255181.1:p.Cys427SerfsTer11
XM_005255125.3:c.1280_1281del	XP_005255182.1:p.Cys427SerfsTer11
XM_006720848.2:c.1280_1281del	XP_006720911.1:p.Cys427SerfsTer11
XM_011522380.1:c.1226_1227del	XP_011520682.1:p.Cys409SerfsTer11
XM_011522381.1:c.527_528del	XP_011520683.1:p.Cys176SerfsTer11
XM_011522382.1:c.1280_1281del	XP_011520684.1:p.Cys427SerfsTer11
XM_005255124.4:c.1280_1281del	XP_005255181.1:p.Cys427SerfsTer11
XM_005255125.4:c.1280_1281del	XP_005255182.1:p.Cys427SerfsTer11
XM_006720848.3:c.1280_1281del	XP_006720911.1:p.Cys427SerfsTer11
XM_011522381.2:c.527_528del	XP_011520683.1:p.Cys176SerfsTer11
XM_011522382.3:c.1280_1281del	XP_011520684.1:p.Cys427SerfsTer11
XM_017022944.1:c.1280_1281del	XP_016878433.1:p.Cys427SerfsTer11
NM_004380.3:c.1280_1281del MANE Select	NP_004371.2:p.Cys427SerfsTer11