Canonical Allele Identifier: CA2590182461

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2820012
• ClinVar RCV Id: RCV003760983
• gnomAD v3: 16-3727745-C-CGTGTCCCCCGTG
• gnomAD v4: 16-3727745-C-CGTGTCCCCCGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727754_3727765dup , CM000678.2:g.3727754_3727765dup	GRCh38
NC_000016.9:g.3777755_3777766dup , CM000678.1:g.3777755_3777766dup	GRCh37
NC_000016.8:g.3717756_3717767dup	NCBI36
NG_009873.1:g.157364_157375dup
NG_009873.2:g.157957_157968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7290_7301dup MANE Select	ENSP00000262367.5:p.Thr2434_Leu2435insThrGlyAspThr
ENST00000262367.9:c.7290_7301dup	ENSP00000262367.5:p.Thr2434_Leu2435insThrGlyAspThr
ENST00000382070.7:c.7176_7187dup	ENSP00000371502.3:p.Thr2396_Leu2397insThrGlyAspThr
NM_001079846.1:c.7176_7187dup	NP_001073315.1:p.Thr2396_Leu2397insThrGlyAspThr
NM_004380.2:c.7290_7301dup	NP_004371.2:p.Thr2434_Leu2435insThrGlyAspThr
XM_005255124.3:c.7245_7256dup	XP_005255181.1:p.Thr2419_Leu2420insThrGlyAspThr
XM_005255125.3:c.6873_6884dup	XP_005255182.1:p.Thr2295_Leu2296insThrGlyAspThr
XM_006720848.2:c.7029_7040dup	XP_006720911.1:p.Thr2347_Leu2348insThrGlyAspThr
XM_011522380.1:c.7236_7247dup	XP_011520682.1:p.Thr2416_Leu2417insThrGlyAspThr
XM_011522381.1:c.6537_6548dup	XP_011520683.1:p.Thr2183_Leu2184insThrGlyAspThr
XM_005255124.4:c.7245_7256dup	XP_005255181.1:p.Thr2419_Leu2420insThrGlyAspThr
XM_005255125.4:c.6873_6884dup	XP_005255182.1:p.Thr2295_Leu2296insThrGlyAspThr
XM_006720848.3:c.7029_7040dup	XP_006720911.1:p.Thr2347_Leu2348insThrGlyAspThr
XM_011522381.2:c.6537_6548dup	XP_011520683.1:p.Thr2183_Leu2184insThrGlyAspThr
XM_017022944.1:c.7284_7295dup	XP_016878433.1:p.Thr2432_Leu2433insThrGlyAspThr
NM_004380.3:c.7290_7301dup MANE Select	NP_004371.2:p.Thr2434_Leu2435insThrGlyAspThr