Canonical Allele Identifier: CA2202939765

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739573_3739574delinsAC , CM000678.2:g.3739573_3739574delinsAC	GRCh38
NC_000016.9:g.3789574_3789575delinsAC , CM000678.1:g.3789574_3789575delinsAC	GRCh37
NC_000016.8:g.3729575_3729576delinsAC	NCBI36
NG_009873.1:g.145547_145548delinsGT
NG_009873.2:g.146140_146141delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4280+4_4280+5delinsGT MANE Select	ENSP00000262367.5:n.4280+4_4280+5delinsGT
ENST00000262367.9:c.4280+4_4280+5delinsGT	ENSP00000262367.5:n.4280+4_4280+5delinsGT
ENST00000382070.7:c.4166+4_4166+5delinsGT	ENSP00000371502.3:n.4166+4_4166+5delinsGT
ENST00000570939.2:c.2915+4_2915+5delinsGT	ENSP00000461002.2:n.2915+4_2915+5delinsGT
ENST00000573517.6:c.590_591delinsGT
ENST00000574740.1:n.215+825_215+826delinsGT
ENST00000576720.1:n.3217+4_3217+5delinsGT
NM_001079846.1:c.4166+4_4166+5delinsGT	NP_001073315.1:n.4166+4_4166+5delinsGT
NM_004380.2:c.4280+4_4280+5delinsGT	NP_004371.2:n.4280+4_4280+5delinsGT
XM_005255124.3:c.4235+4_4235+5delinsGT	XP_005255181.1:n.4235+4_4235+5delinsGT
XM_005255125.3:c.3863+4_3863+5delinsGT	XP_005255182.1:n.3863+4_3863+5delinsGT
XM_006720848.2:c.4133+825_4133+826delinsGT	XP_006720911.1:n.4133+825_4133+826delinsGT
XM_011522380.1:c.4226+4_4226+5delinsGT	XP_011520682.1:n.4226+4_4226+5delinsGT
XM_011522381.1:c.3527+4_3527+5delinsGT	XP_011520683.1:n.3527+4_3527+5delinsGT
XM_005255124.4:c.4235+4_4235+5delinsGT	XP_005255181.1:n.4235+4_4235+5delinsGT
XM_005255125.4:c.3863+4_3863+5delinsGT	XP_005255182.1:n.3863+4_3863+5delinsGT
XM_006720848.3:c.4133+825_4133+826delinsGT	XP_006720911.1:n.4133+825_4133+826delinsGT
XM_011522381.2:c.3527+4_3527+5delinsGT	XP_011520683.1:n.3527+4_3527+5delinsGT
XM_017022944.1:c.4274+4_4274+5delinsGT	XP_016878433.1:n.4274+4_4274+5delinsGT
NM_004380.3:c.4280+4_4280+5delinsGT MANE Select	NP_004371.2:n.4280+4_4280+5delinsGT