Canonical Allele Identifier: CA1139664472

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757820del , CM000678.2:g.3757820del	GRCh38
NC_000016.9:g.3807821del , CM000678.1:g.3807821del	GRCh37
NC_000016.8:g.3747822del	NCBI36
NG_009873.1:g.127301del
NG_009873.2:g.127894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3598del MANE Select	ENSP00000262367.5:p.Cys1200ValfsTer?
ENST00000262367.9:c.3598del	ENSP00000262367.5:p.Cys1200ValfsTer?
ENST00000382070.7:c.3484del	ENSP00000371502.3:p.Cys1162ValfsTer?
ENST00000570939.2:c.2203del	ENSP00000461002.2:p.Cys735ValfsTer?
NM_001079846.1:c.3484del	NP_001073315.1:p.Cys1162ValfsTer?
NM_004380.2:c.3598del	NP_004371.2:p.Cys1200ValfsTer?
XM_005255124.3:c.3553del	XP_005255181.1:p.Cys1185ValfsTer?
XM_005255125.3:c.3181del	XP_005255182.1:p.Cys1061ValfsTer?
XM_006720848.2:c.3598del	XP_006720911.1:p.Cys1200ValfsTer?
XM_011522380.1:c.3544del	XP_011520682.1:p.Cys1182ValfsTer?
XM_011522381.1:c.2845del	XP_011520683.1:p.Cys949ValfsTer?
XM_011522382.1:c.3598del	XP_011520684.1:p.Cys1200ValfsTer?
XM_005255124.4:c.3553del	XP_005255181.1:p.Cys1185ValfsTer?
XM_005255125.4:c.3181del	XP_005255182.1:p.Cys1061ValfsTer?
XM_006720848.3:c.3598del	XP_006720911.1:p.Cys1200ValfsTer?
XM_011522381.2:c.2845del	XP_011520683.1:p.Cys949ValfsTer?
XM_011522382.3:c.3598del	XP_011520684.1:p.Cys1200ValfsTer?
XM_017022944.1:c.3592del	XP_016878433.1:p.Cys1198ValfsTer?
NM_004380.3:c.3598del MANE Select	NP_004371.2:p.Cys1200ValfsTer?