Canonical Allele Identifier: CA2580091119

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2431901
• ClinVar RCV Id: RCV003225906

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729456_3729476dup , CM000678.2:g.3729456_3729476dup	GRCh38
NC_000016.9:g.3779457_3779477dup , CM000678.1:g.3779457_3779477dup	GRCh37
NC_000016.8:g.3719458_3719478dup	NCBI36
NG_009873.1:g.155646_155666dup
NG_009873.2:g.156239_156259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5572_5592dup MANE Select	ENSP00000262367.5:p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu
ENST00000262367.9:c.5572_5592dup	ENSP00000262367.5:p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu
ENST00000382070.7:c.5458_5478dup	ENSP00000371502.3:p.Leu1826_Met1827insArgLeuGlnGlnAlaGlnLeu
NM_001079846.1:c.5458_5478dup	NP_001073315.1:p.Leu1826_Met1827insArgLeuGlnGlnAlaGlnLeu
NM_004380.2:c.5572_5592dup	NP_004371.2:p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu
XM_005255124.3:c.5527_5547dup	XP_005255181.1:p.Leu1849_Met1850insArgLeuGlnGlnAlaGlnLeu
XM_005255125.3:c.5155_5175dup	XP_005255182.1:p.Leu1725_Met1726insArgLeuGlnGlnAlaGlnLeu
XM_006720848.2:c.5311_5331dup	XP_006720911.1:p.Leu1777_Met1778insArgLeuGlnGlnAlaGlnLeu
XM_011522380.1:c.5518_5538dup	XP_011520682.1:p.Leu1846_Met1847insArgLeuGlnGlnAlaGlnLeu
XM_011522381.1:c.4819_4839dup	XP_011520683.1:p.Leu1613_Met1614insArgLeuGlnGlnAlaGlnLeu
XM_005255124.4:c.5527_5547dup	XP_005255181.1:p.Leu1849_Met1850insArgLeuGlnGlnAlaGlnLeu
XM_005255125.4:c.5155_5175dup	XP_005255182.1:p.Leu1725_Met1726insArgLeuGlnGlnAlaGlnLeu
XM_006720848.3:c.5311_5331dup	XP_006720911.1:p.Leu1777_Met1778insArgLeuGlnGlnAlaGlnLeu
XM_011522381.2:c.4819_4839dup	XP_011520683.1:p.Leu1613_Met1614insArgLeuGlnGlnAlaGlnLeu
XM_017022944.1:c.5566_5586dup	XP_016878433.1:p.Leu1862_Met1863insArgLeuGlnGlnAlaGlnLeu
NM_004380.3:c.5572_5592dup MANE Select	NP_004371.2:p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu