Canonical Allele Identifier: CA2697549653

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767870_3767873del , CM000678.2:g.3767870_3767873del	GRCh38
NC_000016.9:g.3817871_3817874del , CM000678.1:g.3817871_3817874del	GRCh37
NC_000016.8:g.3757872_3757875del	NCBI36
NG_009873.1:g.117250_117253del
NG_009873.2:g.117843_117846del

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3099_3102del MANE Select	NP_004371.2:p.Glu1034LysfsTer4
ENST00000262367.10:c.3099_3102del MANE Select	ENSP00000262367.5:p.Glu1034LysfsTer4
NM_001079846.1:c.2985_2988del	NP_001073315.1:p.Glu996LysfsTer4
NM_004380.2:c.3099_3102del	NP_004371.2:p.Glu1034LysfsTer4
ENST00000262367.9:c.3099_3102del	ENSP00000262367.5:p.Glu1034LysfsTer4
ENST00000382070.7:c.2985_2988del	ENSP00000371502.3:p.Glu996LysfsTer4
ENST00000570939.2:c.1704_1707del	ENSP00000461002.2:p.Glu569LysfsTer4
ENST00000573672.1:n.353_356del
XM_005255124.3:c.3054_3057del	XP_005255181.1:p.Glu1019LysfsTer4
XM_005255124.4:c.3054_3057del	XP_005255181.1:p.Glu1019LysfsTer4
XM_005255125.3:c.2682_2685del	XP_005255182.1:p.Glu895LysfsTer4
XM_005255125.4:c.2682_2685del	XP_005255182.1:p.Glu895LysfsTer4
XM_006720848.2:c.3099_3102del	XP_006720911.1:p.Glu1034LysfsTer4
XM_006720848.3:c.3099_3102del	XP_006720911.1:p.Glu1034LysfsTer4
XM_011522380.1:c.3045_3048del	XP_011520682.1:p.Glu1016LysfsTer4
XM_011522381.1:c.2346_2349del	XP_011520683.1:p.Glu783LysfsTer4
XM_011522381.2:c.2346_2349del	XP_011520683.1:p.Glu783LysfsTer4
XM_011522382.1:c.3099_3102del	XP_011520684.1:p.Glu1034LysfsTer4
XM_011522382.3:c.3099_3102del	XP_011520684.1:p.Glu1034LysfsTer4
XM_017022944.1:c.3093_3096del	XP_016878433.1:p.Glu1032LysfsTer4