Canonical Allele Identifier: CA16620197

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 424439
• ClinVar RCV Id: RCV000481712
• dbSNP Id: rs1555471355
• MyVariant Identifiers: chr16:g.3779465_3779485dup21 (hg19) ; chr16:g.3779464_3779465insCTGCTGCAGGCGGTGCTGGAT (hg19) ; chr16:g.3729464_3729484dup21 (hg38) ; chr16:g.3729463_3729464insCTGCTGCAGGCGGTGCTGGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729471_3729491dup , CM000678.2:g.3729471_3729491dup	GRCh38
NC_000016.9:g.3779472_3779492dup , CM000678.1:g.3779472_3779492dup	GRCh37
NC_000016.8:g.3719473_3719493dup	NCBI36
NG_009873.1:g.155637_155657dup
NG_009873.2:g.156230_156250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5563_5583dup MANE Select	ENSP00000262367.5:p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln
ENST00000262367.9:c.5563_5583dup	ENSP00000262367.5:p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln
ENST00000382070.7:c.5449_5469dup	ENSP00000371502.3:p.Gln1823_Ala1824insIleGlnHisArgLeuGlnGln
NM_001079846.1:c.5449_5469dup	NP_001073315.1:p.Gln1823_Ala1824insIleGlnHisArgLeuGlnGln
NM_004380.2:c.5563_5583dup	NP_004371.2:p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln
XM_005255124.3:c.5518_5538dup	XP_005255181.1:p.Gln1846_Ala1847insIleGlnHisArgLeuGlnGln
XM_005255125.3:c.5146_5166dup	XP_005255182.1:p.Gln1722_Ala1723insIleGlnHisArgLeuGlnGln
XM_006720848.2:c.5302_5322dup	XP_006720911.1:p.Gln1774_Ala1775insIleGlnHisArgLeuGlnGln
XM_011522380.1:c.5509_5529dup	XP_011520682.1:p.Gln1843_Ala1844insIleGlnHisArgLeuGlnGln
XM_011522381.1:c.4810_4830dup	XP_011520683.1:p.Gln1610_Ala1611insIleGlnHisArgLeuGlnGln
XM_005255124.4:c.5518_5538dup	XP_005255181.1:p.Gln1846_Ala1847insIleGlnHisArgLeuGlnGln
XM_005255125.4:c.5146_5166dup	XP_005255182.1:p.Gln1722_Ala1723insIleGlnHisArgLeuGlnGln
XM_006720848.3:c.5302_5322dup	XP_006720911.1:p.Gln1774_Ala1775insIleGlnHisArgLeuGlnGln
XM_011522381.2:c.4810_4830dup	XP_011520683.1:p.Gln1610_Ala1611insIleGlnHisArgLeuGlnGln
XM_017022944.1:c.5557_5577dup	XP_016878433.1:p.Gln1859_Ala1860insIleGlnHisArgLeuGlnGln
NM_004380.3:c.5563_5583dup MANE Select	NP_004371.2:p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln