Canonical Allele Identifier: CA2631402683

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3739449-GTTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739452_3739455del , CM000678.2:g.3739452_3739455del	GRCh38
NC_000016.9:g.3789453_3789456del , CM000678.1:g.3789453_3789456del	GRCh37
NC_000016.8:g.3729454_3729457del	NCBI36
NG_009873.1:g.145668_145671del
NG_009873.2:g.146261_146264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4280+125_4280+128del MANE Select	ENSP00000262367.5:n.4280+125_4280+128del
ENST00000262367.9:c.4280+125_4280+128del	ENSP00000262367.5:n.4280+125_4280+128del
ENST00000382070.7:c.4166+125_4166+128del	ENSP00000371502.3:n.4166+125_4166+128del
ENST00000570939.2:c.2915+125_2915+128del	ENSP00000461002.2:n.2915+125_2915+128del
ENST00000573517.6:c.711_714del
ENST00000574740.1:n.215+946_215+949del
ENST00000576720.1:n.3217+125_3217+128del
NM_001079846.1:c.4166+125_4166+128del	NP_001073315.1:n.4166+125_4166+128del
NM_004380.2:c.4280+125_4280+128del	NP_004371.2:n.4280+125_4280+128del
XM_005255124.3:c.4235+125_4235+128del	XP_005255181.1:n.4235+125_4235+128del
XM_005255125.3:c.3863+125_3863+128del	XP_005255182.1:n.3863+125_3863+128del
XM_006720848.2:c.4133+946_4133+949del	XP_006720911.1:n.4133+946_4133+949del
XM_011522380.1:c.4226+125_4226+128del	XP_011520682.1:n.4226+125_4226+128del
XM_011522381.1:c.3527+125_3527+128del	XP_011520683.1:n.3527+125_3527+128del
XM_005255124.4:c.4235+125_4235+128del	XP_005255181.1:n.4235+125_4235+128del
XM_005255125.4:c.3863+125_3863+128del	XP_005255182.1:n.3863+125_3863+128del
XM_006720848.3:c.4133+946_4133+949del	XP_006720911.1:n.4133+946_4133+949del
XM_011522381.2:c.3527+125_3527+128del	XP_011520683.1:n.3527+125_3527+128del
XM_017022944.1:c.4274+125_4274+128del	XP_016878433.1:n.4274+125_4274+128del
NM_004380.3:c.4280+125_4280+128del MANE Select	NP_004371.2:n.4280+125_4280+128del