Canonical Allele Identifier: CA2573152061

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1685672
• ClinVar RCV Id: RCV002249839
• dbSNP Id: rs2151309803

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729477_3729497del , CM000678.2:g.3729477_3729497del	GRCh38
NC_000016.9:g.3779478_3779498del , CM000678.1:g.3779478_3779498del	GRCh37
NC_000016.8:g.3719479_3719499del	NCBI36
NG_009873.1:g.155629_155649del
NG_009873.2:g.156222_156242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5555_5575del MANE Select	ENSP00000262367.5:p.Gln1852_Arg1858del
ENST00000262367.9:c.5555_5575del	ENSP00000262367.5:p.Gln1852_Arg1858del
ENST00000382070.7:c.5441_5461del	ENSP00000371502.3:p.Gln1814_Arg1820del
NM_001079846.1:c.5441_5461del	NP_001073315.1:p.Gln1814_Arg1820del
NM_004380.2:c.5555_5575del	NP_004371.2:p.Gln1852_Arg1858del
XM_005255124.3:c.5510_5530del	XP_005255181.1:p.Gln1837_Arg1843del
XM_005255125.3:c.5138_5158del	XP_005255182.1:p.Gln1713_Arg1719del
XM_006720848.2:c.5294_5314del	XP_006720911.1:p.Gln1765_Arg1771del
XM_011522380.1:c.5501_5521del	XP_011520682.1:p.Gln1834_Arg1840del
XM_011522381.1:c.4802_4822del	XP_011520683.1:p.Gln1601_Arg1607del
XM_005255124.4:c.5510_5530del	XP_005255181.1:p.Gln1837_Arg1843del
XM_005255125.4:c.5138_5158del	XP_005255182.1:p.Gln1713_Arg1719del
XM_006720848.3:c.5294_5314del	XP_006720911.1:p.Gln1765_Arg1771del
XM_011522381.2:c.4802_4822del	XP_011520683.1:p.Gln1601_Arg1607del
XM_017022944.1:c.5549_5569del	XP_016878433.1:p.Gln1850_Arg1856del
NM_004380.3:c.5555_5575del MANE Select	NP_004371.2:p.Gln1852_Arg1858del