Canonical Allele Identifier: CA2731844847

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299319

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727954del , CM000678.2:g.3727954del	GRCh38
NC_000016.9:g.3777955del , CM000678.1:g.3777955del	GRCh37
NC_000016.8:g.3717956del	NCBI36
NG_009873.1:g.157168del
NG_009873.2:g.157761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7094del MANE Select	ENSP00000262367.5:p.Pro2365HisfsTer?
ENST00000262367.9:c.7094del	ENSP00000262367.5:p.Pro2365HisfsTer?
ENST00000382070.7:c.6980del	ENSP00000371502.3:p.Pro2327HisfsTer?
NM_001079846.1:c.6980del	NP_001073315.1:p.Pro2327HisfsTer?
NM_004380.2:c.7094del	NP_004371.2:p.Pro2365HisfsTer?
XM_005255124.3:c.7049del	XP_005255181.1:p.Pro2350HisfsTer?
XM_005255125.3:c.6677del	XP_005255182.1:p.Pro2226HisfsTer?
XM_006720848.2:c.6833del	XP_006720911.1:p.Pro2278HisfsTer?
XM_011522380.1:c.7040del	XP_011520682.1:p.Pro2347HisfsTer?
XM_011522381.1:c.6341del	XP_011520683.1:p.Pro2114HisfsTer?
XM_005255124.4:c.7049del	XP_005255181.1:p.Pro2350HisfsTer?
XM_005255125.4:c.6677del	XP_005255182.1:p.Pro2226HisfsTer?
XM_006720848.3:c.6833del	XP_006720911.1:p.Pro2278HisfsTer?
XM_011522381.2:c.6341del	XP_011520683.1:p.Pro2114HisfsTer?
XM_017022944.1:c.7088del	XP_016878433.1:p.Pro2363HisfsTer?
NM_004380.3:c.7094del MANE Select	NP_004371.2:p.Pro2365HisfsTer?