Canonical Allele Identifier: CA2999328021

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729639_3729641del , CM000678.2:g.3729639_3729641del	GRCh38
NC_000016.9:g.3779640_3779642del , CM000678.1:g.3779640_3779642del	GRCh37
NC_000016.8:g.3719641_3719643del	NCBI36
NG_009873.1:g.155483_155485del
NG_009873.2:g.156076_156078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5409_5411del MANE Select	ENSP00000262367.5:p.Gln1803del
ENST00000262367.9:c.5409_5411del	ENSP00000262367.5:p.Gln1803del
ENST00000382070.7:c.5295_5297del	ENSP00000371502.3:p.Gln1765del
NM_001079846.1:c.5295_5297del	NP_001073315.1:p.Gln1765del
NM_004380.2:c.5409_5411del	NP_004371.2:p.Gln1803del
XM_005255124.3:c.5364_5366del	XP_005255181.1:p.Gln1788del
XM_005255125.3:c.4992_4994del	XP_005255182.1:p.Gln1664del
XM_006720848.2:c.5148_5150del	XP_006720911.1:p.Gln1716del
XM_011522380.1:c.5355_5357del	XP_011520682.1:p.Gln1785del
XM_011522381.1:c.4656_4658del	XP_011520683.1:p.Gln1552del
XM_005255124.4:c.5364_5366del	XP_005255181.1:p.Gln1788del
XM_005255125.4:c.4992_4994del	XP_005255182.1:p.Gln1664del
XM_006720848.3:c.5148_5150del	XP_006720911.1:p.Gln1716del
XM_011522381.2:c.4656_4658del	XP_011520683.1:p.Gln1552del
XM_017022944.1:c.5403_5405del	XP_016878433.1:p.Gln1801del
NM_004380.3:c.5409_5411del MANE Select	NP_004371.2:p.Gln1803del