Canonical Allele Identifier: CA2580091120

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2034640
• ClinVar RCV Id: RCV002868039

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729462_3729482dup , CM000678.2:g.3729462_3729482dup	GRCh38
NC_000016.9:g.3779463_3779483dup , CM000678.1:g.3779463_3779483dup	GRCh37
NC_000016.8:g.3719464_3719484dup	NCBI36
NG_009873.1:g.155644_155664dup
NG_009873.2:g.156237_156257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5570_5590dup MANE Select	ENSP00000262367.5:p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln
ENST00000262367.9:c.5570_5590dup	ENSP00000262367.5:p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln
ENST00000382070.7:c.5456_5476dup	ENSP00000371502.3:p.Gln1825_Leu1826insHisArgLeuGlnGlnAlaGln
NM_001079846.1:c.5456_5476dup	NP_001073315.1:p.Gln1825_Leu1826insHisArgLeuGlnGlnAlaGln
NM_004380.2:c.5570_5590dup	NP_004371.2:p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln
XM_005255124.3:c.5525_5545dup	XP_005255181.1:p.Gln1848_Leu1849insHisArgLeuGlnGlnAlaGln
XM_005255125.3:c.5153_5173dup	XP_005255182.1:p.Gln1724_Leu1725insHisArgLeuGlnGlnAlaGln
XM_006720848.2:c.5309_5329dup	XP_006720911.1:p.Gln1776_Leu1777insHisArgLeuGlnGlnAlaGln
XM_011522380.1:c.5516_5536dup	XP_011520682.1:p.Gln1845_Leu1846insHisArgLeuGlnGlnAlaGln
XM_011522381.1:c.4817_4837dup	XP_011520683.1:p.Gln1612_Leu1613insHisArgLeuGlnGlnAlaGln
XM_005255124.4:c.5525_5545dup	XP_005255181.1:p.Gln1848_Leu1849insHisArgLeuGlnGlnAlaGln
XM_005255125.4:c.5153_5173dup	XP_005255182.1:p.Gln1724_Leu1725insHisArgLeuGlnGlnAlaGln
XM_006720848.3:c.5309_5329dup	XP_006720911.1:p.Gln1776_Leu1777insHisArgLeuGlnGlnAlaGln
XM_011522381.2:c.4817_4837dup	XP_011520683.1:p.Gln1612_Leu1613insHisArgLeuGlnGlnAlaGln
XM_017022944.1:c.5564_5584dup	XP_016878433.1:p.Gln1861_Leu1862insHisArgLeuGlnGlnAlaGln
NM_004380.3:c.5570_5590dup MANE Select	NP_004371.2:p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln