Canonical Allele Identifier: CA2805635799

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810791_3810792insCCAAACACACCCAACAC , CM000678.2:g.3810791_3810792insCCAAACACACCCAACAC	GRCh38
NC_000016.9:g.3860792_3860793insCCAAACACACCCAACAC , CM000678.1:g.3860792_3860793insCCAAACACACCCAACAC	GRCh37
NC_000016.8:g.3800793_3800794insCCAAACACACCCAACAC	NCBI36
NG_009873.1:g.74329_74330insGTGTTGGGTGTGTTTGG
NG_009873.2:g.74922_74923insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-13_799-12insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000262367.5:n.799-13_799-12insGTGTTGGGTGTGTTTGG
ENST00000635899.1:n.41-13_41-12insGTGTTGGGTGTGTTTGG
ENST00000262367.9:c.799-13_799-12insGTGTTGGGTGTGTTTGG	ENSP00000262367.5:n.799-13_799-12insGTGTTGGGTGTGTTTGG
ENST00000382070.7:c.799-13_799-12insGTGTTGGGTGTGTTTGG	ENSP00000371502.3:n.799-13_799-12insGTGTTGGGTGTGTTTGG
NM_001079846.1:c.799-13_799-12insGTGTTGGGTGTGTTTGG	NP_001073315.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
NM_004380.2:c.799-13_799-12insGTGTTGGGTGTGTTTGG	NP_004371.2:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_005255124.3:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_005255181.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_005255125.3:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_005255182.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_006720848.2:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_006720911.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_011522380.1:c.745-13_745-12insGTGTTGGGTGTGTTTGG	XP_011520682.1:n.745-13_745-12insGTGTTGGGTGTGTTTGG
XM_011522381.1:c.46-13_46-12insGTGTTGGGTGTGTTTGG	XP_011520683.1:n.46-13_46-12insGTGTTGGGTGTGTTTGG
XM_011522382.1:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_011520684.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_005255124.4:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_005255181.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_005255125.4:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_005255182.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_006720848.3:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_006720911.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_011522381.2:c.46-13_46-12insGTGTTGGGTGTGTTTGG	XP_011520683.1:n.46-13_46-12insGTGTTGGGTGTGTTTGG
XM_011522382.3:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_011520684.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
XM_017022944.1:c.799-13_799-12insGTGTTGGGTGTGTTTGG	XP_016878433.1:n.799-13_799-12insGTGTTGGGTGTGTTTGG
NM_004380.3:c.799-13_799-12insGTGTTGGGTGTGTTTGG MANE Select	NP_004371.2:n.799-13_799-12insGTGTTGGGTGTGTTTGG