Canonical Allele Identifier: CA1139664467

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 975527
• ClinVar RCV Id: RCV001252210
• dbSNP Id: rs2051830234

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728944del , CM000678.2:g.3728944del	GRCh38
NC_000016.9:g.3778945del , CM000678.1:g.3778945del	GRCh37
NC_000016.8:g.3718946del	NCBI36
NG_009873.1:g.156178del
NG_009873.2:g.156771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6104del MANE Select	ENSP00000262367.5:p.Leu2035CysfsTer5
ENST00000262367.9:c.6104del	ENSP00000262367.5:p.Leu2035CysfsTer5
ENST00000382070.7:c.5990del	ENSP00000371502.3:p.Leu1997CysfsTer5
NM_001079846.1:c.5990del	NP_001073315.1:p.Leu1997CysfsTer5
NM_004380.2:c.6104del	NP_004371.2:p.Leu2035CysfsTer5
XM_005255124.3:c.6059del	XP_005255181.1:p.Leu2020CysfsTer5
XM_005255125.3:c.5687del	XP_005255182.1:p.Leu1896CysfsTer5
XM_006720848.2:c.5843del	XP_006720911.1:p.Leu1948CysfsTer5
XM_011522380.1:c.6050del	XP_011520682.1:p.Leu2017CysfsTer5
XM_011522381.1:c.5351del	XP_011520683.1:p.Leu1784CysfsTer5
XM_005255124.4:c.6059del	XP_005255181.1:p.Leu2020CysfsTer5
XM_005255125.4:c.5687del	XP_005255182.1:p.Leu1896CysfsTer5
XM_006720848.3:c.5843del	XP_006720911.1:p.Leu1948CysfsTer5
XM_011522381.2:c.5351del	XP_011520683.1:p.Leu1784CysfsTer5
XM_017022944.1:c.6098del	XP_016878433.1:p.Leu2033CysfsTer5
NM_004380.3:c.6104del MANE Select	NP_004371.2:p.Leu2035CysfsTer5