Canonical Allele Identifier: CA2580091145

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736113_3736117del , CM000678.2:g.3736113_3736117del	GRCh38
NC_000016.9:g.3786114_3786118del , CM000678.1:g.3786114_3786118del	GRCh37
NC_000016.8:g.3726115_3726119del	NCBI36
NG_009873.1:g.149007_149011del
NG_009873.2:g.149600_149604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4650_4654del MANE Select	ENSP00000262367.5:p.Glu1551HisfsTer2
ENST00000262367.9:c.4650_4654del	ENSP00000262367.5:p.Glu1551HisfsTer2
ENST00000382070.7:c.4536_4540del	ENSP00000371502.3:p.Glu1513HisfsTer2
ENST00000570939.2:c.3285_3289del	ENSP00000461002.2:p.Glu1096HisfsTer2
ENST00000571763.5:n.440_444del
ENST00000576720.1:n.3473_3477del
NM_001079846.1:c.4536_4540del	NP_001073315.1:p.Glu1513HisfsTer2
NM_004380.2:c.4650_4654del	NP_004371.2:p.Glu1551HisfsTer2
XM_005255124.3:c.4605_4609del	XP_005255181.1:p.Glu1536HisfsTer2
XM_005255125.3:c.4233_4237del	XP_005255182.1:p.Glu1412HisfsTer2
XM_006720848.2:c.4389_4393del	XP_006720911.1:p.Glu1464HisfsTer2
XM_011522380.1:c.4596_4600del	XP_011520682.1:p.Glu1533HisfsTer2
XM_011522381.1:c.3897_3901del	XP_011520683.1:p.Glu1300HisfsTer2
XM_005255124.4:c.4605_4609del	XP_005255181.1:p.Glu1536HisfsTer2
XM_005255125.4:c.4233_4237del	XP_005255182.1:p.Glu1412HisfsTer2
XM_006720848.3:c.4389_4393del	XP_006720911.1:p.Glu1464HisfsTer2
XM_011522381.2:c.3897_3901del	XP_011520683.1:p.Glu1300HisfsTer2
XM_017022944.1:c.4644_4648del	XP_016878433.1:p.Glu1549HisfsTer2
NM_004380.3:c.4650_4654del MANE Select	NP_004371.2:p.Glu1551HisfsTer2