Canonical Allele Identifier: CA2202928864

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728826_3728827delinsAG , CM000678.2:g.3728826_3728827delinsAG	GRCh38
NC_000016.9:g.3778827_3778828delinsAG , CM000678.1:g.3778827_3778828delinsAG	GRCh37
NC_000016.8:g.3718828_3718829delinsAG	NCBI36
NG_009873.1:g.156294_156295delinsCT
NG_009873.2:g.156887_156888delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6220_6221delinsCT MANE Select	ENSP00000262367.5:p.Leu2074=
ENST00000262367.9:c.6220_6221delinsCT	ENSP00000262367.5:p.Leu2074=
ENST00000382070.7:c.6106_6107delinsCT	ENSP00000371502.3:p.Leu2036=
NM_001079846.1:c.6106_6107delinsCT	NP_001073315.1:p.Leu2036=
NM_004380.2:c.6220_6221delinsCT	NP_004371.2:p.Leu2074=
XM_005255124.3:c.6175_6176delinsCT	XP_005255181.1:p.Leu2059=
XM_005255125.3:c.5803_5804delinsCT	XP_005255182.1:p.Leu1935=
XM_006720848.2:c.5959_5960delinsCT	XP_006720911.1:p.Leu1987=
XM_011522380.1:c.6166_6167delinsCT	XP_011520682.1:p.Leu2056=
XM_011522381.1:c.5467_5468delinsCT	XP_011520683.1:p.Leu1823=
XM_005255124.4:c.6175_6176delinsCT	XP_005255181.1:p.Leu2059=
XM_005255125.4:c.5803_5804delinsCT	XP_005255182.1:p.Leu1935=
XM_006720848.3:c.5959_5960delinsCT	XP_006720911.1:p.Leu1987=
XM_011522381.2:c.5467_5468delinsCT	XP_011520683.1:p.Leu1823=
XM_017022944.1:c.6214_6215delinsCT	XP_016878433.1:p.Leu2072=
NM_004380.3:c.6220_6221delinsCT MANE Select	NP_004371.2:p.Leu2074=