Canonical Allele Identifier: CA2695222703

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810767_3810768del , CM000678.2:g.3810767_3810768del	GRCh38
NC_000016.9:g.3860768_3860769del , CM000678.1:g.3860768_3860769del	GRCh37
NC_000016.8:g.3800769_3800770del	NCBI36
NG_009873.1:g.74353_74354del
NG_009873.2:g.74946_74947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.810_811del MANE Select	ENSP00000262367.5:p.Gly271GlufsTer10
ENST00000635899.1:n.52_53del
ENST00000262367.9:c.810_811del	ENSP00000262367.5:p.Gly271GlufsTer10
ENST00000382070.7:c.810_811del	ENSP00000371502.3:p.Gly271GlufsTer10
NM_001079846.1:c.810_811del	NP_001073315.1:p.Gly271GlufsTer10
NM_004380.2:c.810_811del	NP_004371.2:p.Gly271GlufsTer10
XM_005255124.3:c.810_811del	XP_005255181.1:p.Gly271GlufsTer10
XM_005255125.3:c.810_811del	XP_005255182.1:p.Gly271GlufsTer10
XM_006720848.2:c.810_811del	XP_006720911.1:p.Gly271GlufsTer10
XM_011522380.1:c.756_757del	XP_011520682.1:p.Gly253GlufsTer10
XM_011522381.1:c.57_58del	XP_011520683.1:p.Gly20GlufsTer10
XM_011522382.1:c.810_811del	XP_011520684.1:p.Gly271GlufsTer10
XM_005255124.4:c.810_811del	XP_005255181.1:p.Gly271GlufsTer10
XM_005255125.4:c.810_811del	XP_005255182.1:p.Gly271GlufsTer10
XM_006720848.3:c.810_811del	XP_006720911.1:p.Gly271GlufsTer10
XM_011522381.2:c.57_58del	XP_011520683.1:p.Gly20GlufsTer10
XM_011522382.3:c.810_811del	XP_011520684.1:p.Gly271GlufsTer10
XM_017022944.1:c.810_811del	XP_016878433.1:p.Gly271GlufsTer10
NM_004380.3:c.810_811del MANE Select	NP_004371.2:p.Gly271GlufsTer10