Canonical Allele Identifier: CA2573054229

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1342324
• ClinVar RCV Id: RCV001839075
• dbSNP Id: rs2151307787
• gnomAD v4: 16-3729200-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729202_3729204dup , CM000678.2:g.3729202_3729204dup	GRCh38
NC_000016.9:g.3779203_3779205dup , CM000678.1:g.3779203_3779205dup	GRCh37
NC_000016.8:g.3719204_3719206dup	NCBI36
NG_009873.1:g.155918_155920dup
NG_009873.2:g.156511_156513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5844_5846dup MANE Select	ENSP00000262367.5:p.Ala1949_Gln1950insAla
ENST00000262367.9:c.5844_5846dup	ENSP00000262367.5:p.Ala1949_Gln1950insAla
ENST00000382070.7:c.5730_5732dup	ENSP00000371502.3:p.Ala1911_Gln1912insAla
NM_001079846.1:c.5730_5732dup	NP_001073315.1:p.Ala1911_Gln1912insAla
NM_004380.2:c.5844_5846dup	NP_004371.2:p.Ala1949_Gln1950insAla
XM_005255124.3:c.5799_5801dup	XP_005255181.1:p.Ala1934_Gln1935insAla
XM_005255125.3:c.5427_5429dup	XP_005255182.1:p.Ala1810_Gln1811insAla
XM_006720848.2:c.5583_5585dup	XP_006720911.1:p.Ala1862_Gln1863insAla
XM_011522380.1:c.5790_5792dup	XP_011520682.1:p.Ala1931_Gln1932insAla
XM_011522381.1:c.5091_5093dup	XP_011520683.1:p.Ala1698_Gln1699insAla
XM_005255124.4:c.5799_5801dup	XP_005255181.1:p.Ala1934_Gln1935insAla
XM_005255125.4:c.5427_5429dup	XP_005255182.1:p.Ala1810_Gln1811insAla
XM_006720848.3:c.5583_5585dup	XP_006720911.1:p.Ala1862_Gln1863insAla
XM_011522381.2:c.5091_5093dup	XP_011520683.1:p.Ala1698_Gln1699insAla
XM_017022944.1:c.5838_5840dup	XP_016878433.1:p.Ala1947_Gln1948insAla
NM_004380.3:c.5844_5846dup MANE Select	NP_004371.2:p.Ala1949_Gln1950insAla