Canonical Allele Identifier: CA2537323876

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810687del , CM000678.2:g.3810687del	GRCh38
NC_000016.9:g.3860688del , CM000678.1:g.3860688del	GRCh37
NC_000016.8:g.3800689del	NCBI36
NG_009873.1:g.74434del
NG_009873.2:g.75027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.891del MANE Select	ENSP00000262367.5:p.Ala298ProfsTer?
ENST00000262367.9:c.891del	ENSP00000262367.5:p.Ala298ProfsTer?
ENST00000382070.7:c.891del	ENSP00000371502.3:p.Ala298ProfsTer?
NM_001079846.1:c.891del	NP_001073315.1:p.Ala298ProfsTer?
NM_004380.2:c.891del	NP_004371.2:p.Ala298ProfsTer?
XM_005255124.3:c.891del	XP_005255181.1:p.Ala298ProfsTer?
XM_005255125.3:c.891del	XP_005255182.1:p.Ala298ProfsTer?
XM_006720848.2:c.891del	XP_006720911.1:p.Ala298ProfsTer?
XM_011522380.1:c.837del	XP_011520682.1:p.Ala280ProfsTer?
XM_011522381.1:c.138del	XP_011520683.1:p.Ala47ProfsTer?
XM_011522382.1:c.891del	XP_011520684.1:p.Ala298ProfsTer?
XM_005255124.4:c.891del	XP_005255181.1:p.Ala298ProfsTer?
XM_005255125.4:c.891del	XP_005255182.1:p.Ala298ProfsTer?
XM_006720848.3:c.891del	XP_006720911.1:p.Ala298ProfsTer?
XM_011522381.2:c.138del	XP_011520683.1:p.Ala47ProfsTer?
XM_011522382.3:c.891del	XP_011520684.1:p.Ala298ProfsTer?
XM_017022944.1:c.891del	XP_016878433.1:p.Ala298ProfsTer?
NM_004380.3:c.891del MANE Select	NP_004371.2:p.Ala298ProfsTer?