Canonical Allele Identifier: CA2202971889

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810786_3810790delinsCAAAA , CM000678.2:g.3810786_3810790delinsCAAAA	GRCh38
NC_000016.9:g.3860787_3860791delinsCAAAA , CM000678.1:g.3860787_3860791delinsCAAAA	GRCh37
NC_000016.8:g.3800788_3800792delinsCAAAA	NCBI36
NG_009873.1:g.74331_74335delinsTTTTG
NG_009873.2:g.74924_74928delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-11_799-7delinsTTTTG MANE Select	ENSP00000262367.5:n.799-11_799-7delinsTTTTG
ENST00000635899.1:n.41-11_41-7delinsTTTTG
ENST00000262367.9:c.799-11_799-7delinsTTTTG	ENSP00000262367.5:n.799-11_799-7delinsTTTTG
ENST00000382070.7:c.799-11_799-7delinsTTTTG	ENSP00000371502.3:n.799-11_799-7delinsTTTTG
NM_001079846.1:c.799-11_799-7delinsTTTTG	NP_001073315.1:n.799-11_799-7delinsTTTTG
NM_004380.2:c.799-11_799-7delinsTTTTG	NP_004371.2:n.799-11_799-7delinsTTTTG
XM_005255124.3:c.799-11_799-7delinsTTTTG	XP_005255181.1:n.799-11_799-7delinsTTTTG
XM_005255125.3:c.799-11_799-7delinsTTTTG	XP_005255182.1:n.799-11_799-7delinsTTTTG
XM_006720848.2:c.799-11_799-7delinsTTTTG	XP_006720911.1:n.799-11_799-7delinsTTTTG
XM_011522380.1:c.745-11_745-7delinsTTTTG	XP_011520682.1:n.745-11_745-7delinsTTTTG
XM_011522381.1:c.46-11_46-7delinsTTTTG	XP_011520683.1:n.46-11_46-7delinsTTTTG
XM_011522382.1:c.799-11_799-7delinsTTTTG	XP_011520684.1:n.799-11_799-7delinsTTTTG
XM_005255124.4:c.799-11_799-7delinsTTTTG	XP_005255181.1:n.799-11_799-7delinsTTTTG
XM_005255125.4:c.799-11_799-7delinsTTTTG	XP_005255182.1:n.799-11_799-7delinsTTTTG
XM_006720848.3:c.799-11_799-7delinsTTTTG	XP_006720911.1:n.799-11_799-7delinsTTTTG
XM_011522381.2:c.46-11_46-7delinsTTTTG	XP_011520683.1:n.46-11_46-7delinsTTTTG
XM_011522382.3:c.799-11_799-7delinsTTTTG	XP_011520684.1:n.799-11_799-7delinsTTTTG
XM_017022944.1:c.799-11_799-7delinsTTTTG	XP_016878433.1:n.799-11_799-7delinsTTTTG
NM_004380.3:c.799-11_799-7delinsTTTTG MANE Select	NP_004371.2:n.799-11_799-7delinsTTTTG