Canonical Allele Identifier: CA2631427306

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3778031-G-GCCTGTGATTCCACAGGCACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778037_3778038insATTCCACAGGCACAACCTGTG , CM000678.2:g.3778037_3778038insATTCCACAGGCACAACCTGTG	GRCh38
NC_000016.9:g.3828038_3828039insATTCCACAGGCACAACCTGTG , CM000678.1:g.3828038_3828039insATTCCACAGGCACAACCTGTG	GRCh37
NC_000016.8:g.3768039_3768040insATTCCACAGGCACAACCTGTG	NCBI36
NG_009873.1:g.107089_107090insTTGTGCCTGTGGAATCACAGG
NG_009873.2:g.107682_107683insTTGTGCCTGTGGAATCACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2092_2093insTTGTGCCTGTGGAATCACAGG MANE Select	ENSP00000262367.5:p.Gln697_Ala698insValValProValGluSerGln
ENST00000262367.9:c.2092_2093insTTGTGCCTGTGGAATCACAGG	ENSP00000262367.5:p.Gln697_Ala698insValValProValGluSerGln
ENST00000382070.7:c.1978_1979insTTGTGCCTGTGGAATCACAGG	ENSP00000371502.3:p.Gln659_Ala660insValValProValGluSerGln
ENST00000570939.2:c.697_698insTTGTGCCTGTGGAATCACAGG	ENSP00000461002.2:p.Gln232_Ala233insValValProValGluSerGln
ENST00000571826.5:c.141_142insTTGTGCCTGTGGAATCACAGG
ENST00000572134.1:c.405_406insTTGTGCCTGTGGAATCACAGG
ENST00000634839.1:n.254_255insTTGTGCCTGTGGAATCACAGG
NM_001079846.1:c.1978_1979insTTGTGCCTGTGGAATCACAGG	NP_001073315.1:p.Gln659_Ala660insValValProValGluSerGln
NM_004380.2:c.2092_2093insTTGTGCCTGTGGAATCACAGG	NP_004371.2:p.Gln697_Ala698insValValProValGluSerGln
XM_005255124.3:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_005255181.1:p.Gln697_Ala698insValValProValGluSerGln
XM_005255125.3:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_005255182.1:p.Gln697_Ala698insValValProValGluSerGln
XM_006720848.2:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_006720911.1:p.Gln697_Ala698insValValProValGluSerGln
XM_011522380.1:c.2038_2039insTTGTGCCTGTGGAATCACAGG	XP_011520682.1:p.Gln679_Ala680insValValProValGluSerGln
XM_011522381.1:c.1339_1340insTTGTGCCTGTGGAATCACAGG	XP_011520683.1:p.Gln446_Ala447insValValProValGluSerGln
XM_011522382.1:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_011520684.1:p.Gln697_Ala698insValValProValGluSerGln
XM_005255124.4:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_005255181.1:p.Gln697_Ala698insValValProValGluSerGln
XM_005255125.4:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_005255182.1:p.Gln697_Ala698insValValProValGluSerGln
XM_006720848.3:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_006720911.1:p.Gln697_Ala698insValValProValGluSerGln
XM_011522381.2:c.1339_1340insTTGTGCCTGTGGAATCACAGG	XP_011520683.1:p.Gln446_Ala447insValValProValGluSerGln
XM_011522382.3:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_011520684.1:p.Gln697_Ala698insValValProValGluSerGln
XM_017022944.1:c.2092_2093insTTGTGCCTGTGGAATCACAGG	XP_016878433.1:p.Gln697_Ala698insValValProValGluSerGln
NM_004380.3:c.2092_2093insTTGTGCCTGTGGAATCACAGG MANE Select	NP_004371.2:p.Gln697_Ala698insValValProValGluSerGln