Canonical Allele Identifier: CA2580091123

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740461_3740465del , CM000678.2:g.3740461_3740465del	GRCh38
NC_000016.9:g.3790462_3790466del , CM000678.1:g.3790462_3790466del	GRCh37
NC_000016.8:g.3730463_3730467del	NCBI36
NG_009873.1:g.144656_144660del
NG_009873.2:g.145249_145253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4067_4071del MANE Select	ENSP00000262367.5:p.Glu1356ValfsTer30
ENST00000262367.9:c.4067_4071del	ENSP00000262367.5:p.Glu1356ValfsTer30
ENST00000382070.7:c.3953_3957del	ENSP00000371502.3:p.Glu1318ValfsTer30
ENST00000570939.2:c.2702_2706del	ENSP00000461002.2:p.Glu901ValfsTer30
ENST00000572569.1:n.531_535del
ENST00000573517.6:c.373_377del
ENST00000574740.1:n.149_153del
ENST00000576720.1:n.3004_3008del
NM_001079846.1:c.3953_3957del	NP_001073315.1:p.Glu1318ValfsTer30
NM_004380.2:c.4067_4071del	NP_004371.2:p.Glu1356ValfsTer30
XM_005255124.3:c.4022_4026del	XP_005255181.1:p.Glu1341ValfsTer30
XM_005255125.3:c.3650_3654del	XP_005255182.1:p.Glu1217ValfsTer30
XM_006720848.2:c.4067_4071del	XP_006720911.1:p.Glu1356ValfsTer?
XM_011522380.1:c.4013_4017del	XP_011520682.1:p.Glu1338ValfsTer30
XM_011522381.1:c.3314_3318del	XP_011520683.1:p.Glu1105ValfsTer30
XM_005255124.4:c.4022_4026del	XP_005255181.1:p.Glu1341ValfsTer30
XM_005255125.4:c.3650_3654del	XP_005255182.1:p.Glu1217ValfsTer30
XM_006720848.3:c.4067_4071del	XP_006720911.1:p.Glu1356ValfsTer?
XM_011522381.2:c.3314_3318del	XP_011520683.1:p.Glu1105ValfsTer30
XM_017022944.1:c.4061_4065del	XP_016878433.1:p.Glu1354ValfsTer30
NM_004380.3:c.4067_4071del MANE Select	NP_004371.2:p.Glu1356ValfsTer30