Canonical Allele Identifier: CA2695222740

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728881del , CM000678.2:g.3728881del	GRCh38
NC_000016.9:g.3778882del , CM000678.1:g.3778882del	GRCh37
NC_000016.8:g.3718883del	NCBI36
NG_009873.1:g.156240del
NG_009873.2:g.156833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6166del MANE Select	ENSP00000262367.5:p.Val2056CysfsTer19
ENST00000262367.9:c.6166del	ENSP00000262367.5:p.Val2056CysfsTer19
ENST00000382070.7:c.6052del	ENSP00000371502.3:p.Val2018CysfsTer19
NM_001079846.1:c.6052del	NP_001073315.1:p.Val2018CysfsTer19
NM_004380.2:c.6166del	NP_004371.2:p.Val2056CysfsTer19
XM_005255124.3:c.6121del	XP_005255181.1:p.Val2041CysfsTer19
XM_005255125.3:c.5749del	XP_005255182.1:p.Val1917CysfsTer19
XM_006720848.2:c.5905del	XP_006720911.1:p.Val1969CysfsTer19
XM_011522380.1:c.6112del	XP_011520682.1:p.Val2038CysfsTer19
XM_011522381.1:c.5413del	XP_011520683.1:p.Val1805CysfsTer19
XM_005255124.4:c.6121del	XP_005255181.1:p.Val2041CysfsTer19
XM_005255125.4:c.5749del	XP_005255182.1:p.Val1917CysfsTer19
XM_006720848.3:c.5905del	XP_006720911.1:p.Val1969CysfsTer19
XM_011522381.2:c.5413del	XP_011520683.1:p.Val1805CysfsTer19
XM_017022944.1:c.6160del	XP_016878433.1:p.Val2054CysfsTer19
NM_004380.3:c.6166del MANE Select	NP_004371.2:p.Val2056CysfsTer19