Canonical Allele Identifier: CA2580091105

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2440548
• ClinVar RCV Id: RCV003145893

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727945_3727949dup , CM000678.2:g.3727945_3727949dup	GRCh38
NC_000016.9:g.3777946_3777950dup , CM000678.1:g.3777946_3777950dup	GRCh37
NC_000016.8:g.3717947_3717951dup	NCBI36
NG_009873.1:g.157172_157176dup
NG_009873.2:g.157765_157769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7098_7102dup MANE Select	ENSP00000262367.5:p.Gln2368ArgfsTer30
ENST00000262367.9:c.7098_7102dup	ENSP00000262367.5:p.Gln2368ArgfsTer30
ENST00000382070.7:c.6984_6988dup	ENSP00000371502.3:p.Gln2330ArgfsTer30
NM_001079846.1:c.6984_6988dup	NP_001073315.1:p.Gln2330ArgfsTer30
NM_004380.2:c.7098_7102dup	NP_004371.2:p.Gln2368ArgfsTer30
XM_005255124.3:c.7053_7057dup	XP_005255181.1:p.Gln2353ArgfsTer30
XM_005255125.3:c.6681_6685dup	XP_005255182.1:p.Gln2229ArgfsTer30
XM_006720848.2:c.6837_6841dup	XP_006720911.1:p.Gln2281ArgfsTer30
XM_011522380.1:c.7044_7048dup	XP_011520682.1:p.Gln2350ArgfsTer30
XM_011522381.1:c.6345_6349dup	XP_011520683.1:p.Gln2117ArgfsTer30
XM_005255124.4:c.7053_7057dup	XP_005255181.1:p.Gln2353ArgfsTer30
XM_005255125.4:c.6681_6685dup	XP_005255182.1:p.Gln2229ArgfsTer30
XM_006720848.3:c.6837_6841dup	XP_006720911.1:p.Gln2281ArgfsTer30
XM_011522381.2:c.6345_6349dup	XP_011520683.1:p.Gln2117ArgfsTer30
XM_017022944.1:c.7092_7096dup	XP_016878433.1:p.Gln2366ArgfsTer30
NM_004380.3:c.7098_7102dup MANE Select	NP_004371.2:p.Gln2368ArgfsTer30