Canonical Allele Identifier: CA2731849153

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299949

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728051del , CM000678.2:g.3728051del	GRCh38
NC_000016.9:g.3778052del , CM000678.1:g.3778052del	GRCh37
NC_000016.8:g.3718053del	NCBI36
NG_009873.1:g.157071del
NG_009873.2:g.157664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6997del MANE Select	ENSP00000262367.5:p.Gln2333SerfsTer?
ENST00000262367.9:c.6997del	ENSP00000262367.5:p.Gln2333SerfsTer?
ENST00000382070.7:c.6883del	ENSP00000371502.3:p.Gln2295SerfsTer?
NM_001079846.1:c.6883del	NP_001073315.1:p.Gln2295SerfsTer?
NM_004380.2:c.6997del	NP_004371.2:p.Gln2333SerfsTer?
XM_005255124.3:c.6952del	XP_005255181.1:p.Gln2318SerfsTer?
XM_005255125.3:c.6580del	XP_005255182.1:p.Gln2194SerfsTer?
XM_006720848.2:c.6736del	XP_006720911.1:p.Gln2246SerfsTer?
XM_011522380.1:c.6943del	XP_011520682.1:p.Gln2315SerfsTer?
XM_011522381.1:c.6244del	XP_011520683.1:p.Gln2082SerfsTer?
XM_005255124.4:c.6952del	XP_005255181.1:p.Gln2318SerfsTer?
XM_005255125.4:c.6580del	XP_005255182.1:p.Gln2194SerfsTer?
XM_006720848.3:c.6736del	XP_006720911.1:p.Gln2246SerfsTer?
XM_011522381.2:c.6244del	XP_011520683.1:p.Gln2082SerfsTer?
XM_017022944.1:c.6991del	XP_016878433.1:p.Gln2331SerfsTer?
NM_004380.3:c.6997del MANE Select	NP_004371.2:p.Gln2333SerfsTer?