Canonical Allele Identifier: CA271433

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 158392
• ClinVar RCV Id: RCV000145773
• dbSNP Id: rs587783508
• MyVariant Identifiers: chr16:g.3779179del (hg19) ; chr16:g.3729178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729179del , CM000678.2:g.3729179del	GRCh38
NC_000016.9:g.3779180del , CM000678.1:g.3779180del	GRCh37
NC_000016.8:g.3719181del	NCBI36
NG_009873.1:g.155943del
NG_009873.2:g.156536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5869del MANE Select	ENSP00000262367.5:p.Glu1957LysfsTer19
ENST00000262367.9:c.5869del	ENSP00000262367.5:p.Glu1957LysfsTer19
ENST00000382070.7:c.5755del	ENSP00000371502.3:p.Glu1919LysfsTer19
NM_001079846.1:c.5755del	NP_001073315.1:p.Glu1919LysfsTer19
NM_004380.2:c.5869del	NP_004371.2:p.Glu1957LysfsTer19
XM_005255124.3:c.5824del	XP_005255181.1:p.Glu1942LysfsTer19
XM_005255125.3:c.5452del	XP_005255182.1:p.Glu1818LysfsTer19
XM_006720848.2:c.5608del	XP_006720911.1:p.Glu1870LysfsTer19
XM_011522380.1:c.5815del	XP_011520682.1:p.Glu1939LysfsTer19
XM_011522381.1:c.5116del	XP_011520683.1:p.Glu1706LysfsTer19
XM_005255124.4:c.5824del	XP_005255181.1:p.Glu1942LysfsTer19
XM_005255125.4:c.5452del	XP_005255182.1:p.Glu1818LysfsTer19
XM_006720848.3:c.5608del	XP_006720911.1:p.Glu1870LysfsTer19
XM_011522381.2:c.5116del	XP_011520683.1:p.Glu1706LysfsTer19
XM_017022944.1:c.5863del	XP_016878433.1:p.Glu1955LysfsTer19
NM_004380.3:c.5869del MANE Select	NP_004371.2:p.Glu1957LysfsTer19