Canonical Allele Identifier: CA2573152059

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1684506
• ClinVar RCV Id: RCV002245513
• dbSNP Id: rs2151306514

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729004dup , CM000678.2:g.3729004dup	GRCh38
NC_000016.9:g.3779005dup , CM000678.1:g.3779005dup	GRCh37
NC_000016.8:g.3719006dup	NCBI36
NG_009873.1:g.156117dup
NG_009873.2:g.156710dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6043dup MANE Select	ENSP00000262367.5:p.Ser2015LysfsTer?
ENST00000262367.9:c.6043dup	ENSP00000262367.5:p.Ser2015LysfsTer?
ENST00000382070.7:c.5929dup	ENSP00000371502.3:p.Ser1977LysfsTer?
NM_001079846.1:c.5929dup	NP_001073315.1:p.Ser1977LysfsTer?
NM_004380.2:c.6043dup	NP_004371.2:p.Ser2015LysfsTer?
XM_005255124.3:c.5998dup	XP_005255181.1:p.Ser2000LysfsTer?
XM_005255125.3:c.5626dup	XP_005255182.1:p.Ser1876LysfsTer?
XM_006720848.2:c.5782dup	XP_006720911.1:p.Ser1928LysfsTer?
XM_011522380.1:c.5989dup	XP_011520682.1:p.Ser1997LysfsTer?
XM_011522381.1:c.5290dup	XP_011520683.1:p.Ser1764LysfsTer?
XM_005255124.4:c.5998dup	XP_005255181.1:p.Ser2000LysfsTer?
XM_005255125.4:c.5626dup	XP_005255182.1:p.Ser1876LysfsTer?
XM_006720848.3:c.5782dup	XP_006720911.1:p.Ser1928LysfsTer?
XM_011522381.2:c.5290dup	XP_011520683.1:p.Ser1764LysfsTer?
XM_017022944.1:c.6037dup	XP_016878433.1:p.Ser2013LysfsTer?
NM_004380.3:c.6043dup MANE Select	NP_004371.2:p.Ser2015LysfsTer?