Canonical Allele Identifier: CA2631403620

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729201-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729202_3729203del , CM000678.2:g.3729202_3729203del	GRCh38
NC_000016.9:g.3779203_3779204del , CM000678.1:g.3779203_3779204del	GRCh37
NC_000016.8:g.3719204_3719205del	NCBI36
NG_009873.1:g.155918_155919del
NG_009873.2:g.156511_156512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5844_5845del MANE Select	ENSP00000262367.5:p.Ala1949ProfsTer16
ENST00000262367.9:c.5844_5845del	ENSP00000262367.5:p.Ala1949ProfsTer16
ENST00000382070.7:c.5730_5731del	ENSP00000371502.3:p.Ala1911ProfsTer16
NM_001079846.1:c.5730_5731del	NP_001073315.1:p.Ala1911ProfsTer16
NM_004380.2:c.5844_5845del	NP_004371.2:p.Ala1949ProfsTer16
XM_005255124.3:c.5799_5800del	XP_005255181.1:p.Ala1934ProfsTer16
XM_005255125.3:c.5427_5428del	XP_005255182.1:p.Ala1810ProfsTer16
XM_006720848.2:c.5583_5584del	XP_006720911.1:p.Ala1862ProfsTer16
XM_011522380.1:c.5790_5791del	XP_011520682.1:p.Ala1931ProfsTer16
XM_011522381.1:c.5091_5092del	XP_011520683.1:p.Ala1698ProfsTer16
XM_005255124.4:c.5799_5800del	XP_005255181.1:p.Ala1934ProfsTer16
XM_005255125.4:c.5427_5428del	XP_005255182.1:p.Ala1810ProfsTer16
XM_006720848.3:c.5583_5584del	XP_006720911.1:p.Ala1862ProfsTer16
XM_011522381.2:c.5091_5092del	XP_011520683.1:p.Ala1698ProfsTer16
XM_017022944.1:c.5838_5839del	XP_016878433.1:p.Ala1947ProfsTer16
NM_004380.3:c.5844_5845del MANE Select	NP_004371.2:p.Ala1949ProfsTer16