Canonical Allele Identifier: CA2202916122

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728930_3728940delinsCACAGGCCTGG , CM000678.2:g.3728930_3728940delinsCACAGGCCTGG	GRCh38
NC_000016.9:g.3778931_3778941delinsCACAGGCCTGG , CM000678.1:g.3778931_3778941delinsCACAGGCCTGG	GRCh37
NC_000016.8:g.3718932_3718942delinsCACAGGCCTGG	NCBI36
NG_009873.1:g.156181_156191delinsCCAGGCCTGTG
NG_009873.2:g.156774_156784delinsCCAGGCCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6107_6117delinsCCAGGCCTGTG MANE Select	ENSP00000262367.5:p.Pro2036=
ENST00000262367.9:c.6107_6117delinsCCAGGCCTGTG	ENSP00000262367.5:p.Pro2036=
ENST00000382070.7:c.5993_6003delinsCCAGGCCTGTG	ENSP00000371502.3:p.Pro1998=
NM_001079846.1:c.5993_6003delinsCCAGGCCTGTG	NP_001073315.1:p.Pro1998=
NM_004380.2:c.6107_6117delinsCCAGGCCTGTG	NP_004371.2:p.Pro2036=
XM_005255124.3:c.6062_6072delinsCCAGGCCTGTG	XP_005255181.1:p.Pro2021=
XM_005255125.3:c.5690_5700delinsCCAGGCCTGTG	XP_005255182.1:p.Pro1897=
XM_006720848.2:c.5846_5856delinsCCAGGCCTGTG	XP_006720911.1:p.Pro1949=
XM_011522380.1:c.6053_6063delinsCCAGGCCTGTG	XP_011520682.1:p.Pro2018=
XM_011522381.1:c.5354_5364delinsCCAGGCCTGTG	XP_011520683.1:p.Pro1785=
XM_005255124.4:c.6062_6072delinsCCAGGCCTGTG	XP_005255181.1:p.Pro2021=
XM_005255125.4:c.5690_5700delinsCCAGGCCTGTG	XP_005255182.1:p.Pro1897=
XM_006720848.3:c.5846_5856delinsCCAGGCCTGTG	XP_006720911.1:p.Pro1949=
XM_011522381.2:c.5354_5364delinsCCAGGCCTGTG	XP_011520683.1:p.Pro1785=
XM_017022944.1:c.6101_6111delinsCCAGGCCTGTG	XP_016878433.1:p.Pro2034=
NM_004380.3:c.6107_6117delinsCCAGGCCTGTG MANE Select	NP_004371.2:p.Pro2036=