Canonical Allele Identifier: CA2731851214

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310906

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729622del , CM000678.2:g.3729622del	GRCh38
NC_000016.9:g.3779623del , CM000678.1:g.3779623del	GRCh37
NC_000016.8:g.3719624del	NCBI36
NG_009873.1:g.155501del
NG_009873.2:g.156094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5427del MANE Select	ENSP00000262367.5:p.Lys1809AsnfsTer?
ENST00000262367.9:c.5427del	ENSP00000262367.5:p.Lys1809AsnfsTer?
ENST00000382070.7:c.5313del	ENSP00000371502.3:p.Lys1771AsnfsTer?
NM_001079846.1:c.5313del	NP_001073315.1:p.Lys1771AsnfsTer?
NM_004380.2:c.5427del	NP_004371.2:p.Lys1809AsnfsTer?
XM_005255124.3:c.5382del	XP_005255181.1:p.Lys1794AsnfsTer?
XM_005255125.3:c.5010del	XP_005255182.1:p.Lys1670AsnfsTer?
XM_006720848.2:c.5166del	XP_006720911.1:p.Lys1722AsnfsTer?
XM_011522380.1:c.5373del	XP_011520682.1:p.Lys1791AsnfsTer?
XM_011522381.1:c.4674del	XP_011520683.1:p.Lys1558AsnfsTer?
XM_005255124.4:c.5382del	XP_005255181.1:p.Lys1794AsnfsTer?
XM_005255125.4:c.5010del	XP_005255182.1:p.Lys1670AsnfsTer?
XM_006720848.3:c.5166del	XP_006720911.1:p.Lys1722AsnfsTer?
XM_011522381.2:c.4674del	XP_011520683.1:p.Lys1558AsnfsTer?
XM_017022944.1:c.5421del	XP_016878433.1:p.Lys1807AsnfsTer?
NM_004380.3:c.5427del MANE Select	NP_004371.2:p.Lys1809AsnfsTer?