Canonical Allele Identifier: CA915949079

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 827801
• ClinVar RCV Id: RCV001027692
• dbSNP Id: rs1596853925

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757843_3757923del , CM000678.2:g.3757843_3757923del	GRCh38
NC_000016.9:g.3807844_3807924del , CM000678.1:g.3807844_3807924del	GRCh37
NC_000016.8:g.3747845_3747925del	NCBI36
NG_009873.1:g.127198_127278del
NG_009873.2:g.127791_127871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3495_3575del MANE Select	ENSP00000262367.5:p.Trp1165_Val1192delins...
ENST00000262367.9:c.3495_3575del	ENSP00000262367.5:p.Trp1165_Val1192delins...
ENST00000382070.7:c.3381_3461del	ENSP00000371502.3:p.Trp1127_Val1154delins...
ENST00000570939.2:c.2100_2180del	ENSP00000461002.2:p.Trp700_Val727delinsCy...
NM_001079846.1:c.3381_3461del	NP_001073315.1:p.Trp1127_Val1154delinsCys...
NM_004380.2:c.3495_3575del	NP_004371.2:p.Trp1165_Val1192delinsCys
XM_005255124.3:c.3450_3530del	XP_005255181.1:p.Trp1150_Val1177delinsCys...
XM_005255125.3:c.3078_3158del	XP_005255182.1:p.Trp1026_Val1053delinsCys...
XM_006720848.2:c.3495_3575del	XP_006720911.1:p.Trp1165_Val1192delinsCys...
XM_011522380.1:c.3441_3521del	XP_011520682.1:p.Trp1147_Val1174delinsCys...
XM_011522381.1:c.2742_2822del	XP_011520683.1:p.Trp914_Val941delinsCys
XM_011522382.1:c.3495_3575del	XP_011520684.1:p.Trp1165_Val1192delinsCys...
XM_005255124.4:c.3450_3530del	XP_005255181.1:p.Trp1150_Val1177delinsCys...
XM_005255125.4:c.3078_3158del	XP_005255182.1:p.Trp1026_Val1053delinsCys...
XM_006720848.3:c.3495_3575del	XP_006720911.1:p.Trp1165_Val1192delinsCys...
XM_011522381.2:c.2742_2822del	XP_011520683.1:p.Trp914_Val941delinsCys
XM_011522382.3:c.3495_3575del	XP_011520684.1:p.Trp1165_Val1192delinsCys...
XM_017022944.1:c.3489_3569del	XP_016878433.1:p.Trp1163_Val1190delinsCys...
NM_004380.3:c.3495_3575del MANE Select	NP_004371.2:p.Trp1165_Val1192delinsCys