Canonical Allele Identifier: CA2840860805

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728916del , CM000678.2:g.3728916del	GRCh38
NC_000016.9:g.3778917del , CM000678.1:g.3778917del	GRCh37
NC_000016.8:g.3718918del	NCBI36
NG_009873.1:g.156207del
NG_009873.2:g.156800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6133del MANE Select	ENSP00000262367.5:p.Gln2045ArgfsTer30
ENST00000262367.9:c.6133del	ENSP00000262367.5:p.Gln2045ArgfsTer30
ENST00000382070.7:c.6019del	ENSP00000371502.3:p.Gln2007ArgfsTer30
NM_001079846.1:c.6019del	NP_001073315.1:p.Gln2007ArgfsTer30
NM_004380.2:c.6133del	NP_004371.2:p.Gln2045ArgfsTer30
XM_005255124.3:c.6088del	XP_005255181.1:p.Gln2030ArgfsTer30
XM_005255125.3:c.5716del	XP_005255182.1:p.Gln1906ArgfsTer30
XM_006720848.2:c.5872del	XP_006720911.1:p.Gln1958ArgfsTer30
XM_011522380.1:c.6079del	XP_011520682.1:p.Gln2027ArgfsTer30
XM_011522381.1:c.5380del	XP_011520683.1:p.Gln1794ArgfsTer30
XM_005255124.4:c.6088del	XP_005255181.1:p.Gln2030ArgfsTer30
XM_005255125.4:c.5716del	XP_005255182.1:p.Gln1906ArgfsTer30
XM_006720848.3:c.5872del	XP_006720911.1:p.Gln1958ArgfsTer30
XM_011522381.2:c.5380del	XP_011520683.1:p.Gln1794ArgfsTer30
XM_017022944.1:c.6127del	XP_016878433.1:p.Gln2043ArgfsTer30
NM_004380.3:c.6133del MANE Select	NP_004371.2:p.Gln2045ArgfsTer30