Canonical Allele Identifier: CA2695222701

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810698dup , CM000678.2:g.3810698dup	GRCh38
NC_000016.9:g.3860699dup , CM000678.1:g.3860699dup	GRCh37
NC_000016.8:g.3800700dup	NCBI36
NG_009873.1:g.74424dup
NG_009873.2:g.75017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.881dup MANE Select	ENSP00000262367.5:p.Asn294LysfsTer?
ENST00000262367.9:c.881dup	ENSP00000262367.5:p.Asn294LysfsTer?
ENST00000382070.7:c.881dup	ENSP00000371502.3:p.Asn294LysfsTer?
NM_001079846.1:c.881dup	NP_001073315.1:p.Asn294LysfsTer?
NM_004380.2:c.881dup	NP_004371.2:p.Asn294LysfsTer?
XM_005255124.3:c.881dup	XP_005255181.1:p.Asn294LysfsTer?
XM_005255125.3:c.881dup	XP_005255182.1:p.Asn294LysfsTer?
XM_006720848.2:c.881dup	XP_006720911.1:p.Asn294LysfsTer?
XM_011522380.1:c.827dup	XP_011520682.1:p.Asn276LysfsTer?
XM_011522381.1:c.128dup	XP_011520683.1:p.Asn43LysfsTer?
XM_011522382.1:c.881dup	XP_011520684.1:p.Asn294LysfsTer?
XM_005255124.4:c.881dup	XP_005255181.1:p.Asn294LysfsTer?
XM_005255125.4:c.881dup	XP_005255182.1:p.Asn294LysfsTer?
XM_006720848.3:c.881dup	XP_006720911.1:p.Asn294LysfsTer?
XM_011522381.2:c.128dup	XP_011520683.1:p.Asn43LysfsTer?
XM_011522382.3:c.881dup	XP_011520684.1:p.Asn294LysfsTer?
XM_017022944.1:c.881dup	XP_016878433.1:p.Asn294LysfsTer?
NM_004380.3:c.881dup MANE Select	NP_004371.2:p.Asn294LysfsTer?