Canonical Allele Identifier: CA2631403221

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728992-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728995del , CM000678.2:g.3728995del	GRCh38
NC_000016.9:g.3778996del , CM000678.1:g.3778996del	GRCh37
NC_000016.8:g.3718997del	NCBI36
NG_009873.1:g.156128del
NG_009873.2:g.156721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6054del MANE Select	ENSP00000262367.5:p.Gln2020SerfsTer20
ENST00000262367.9:c.6054del	ENSP00000262367.5:p.Gln2020SerfsTer20
ENST00000382070.7:c.5940del	ENSP00000371502.3:p.Gln1982SerfsTer20
NM_001079846.1:c.5940del	NP_001073315.1:p.Gln1982SerfsTer20
NM_004380.2:c.6054del	NP_004371.2:p.Gln2020SerfsTer20
XM_005255124.3:c.6009del	XP_005255181.1:p.Gln2005SerfsTer20
XM_005255125.3:c.5637del	XP_005255182.1:p.Gln1881SerfsTer20
XM_006720848.2:c.5793del	XP_006720911.1:p.Gln1933SerfsTer20
XM_011522380.1:c.6000del	XP_011520682.1:p.Gln2002SerfsTer20
XM_011522381.1:c.5301del	XP_011520683.1:p.Gln1769SerfsTer20
XM_005255124.4:c.6009del	XP_005255181.1:p.Gln2005SerfsTer20
XM_005255125.4:c.5637del	XP_005255182.1:p.Gln1881SerfsTer20
XM_006720848.3:c.5793del	XP_006720911.1:p.Gln1933SerfsTer20
XM_011522381.2:c.5301del	XP_011520683.1:p.Gln1769SerfsTer20
XM_017022944.1:c.6048del	XP_016878433.1:p.Gln2018SerfsTer20
NM_004380.3:c.6054del MANE Select	NP_004371.2:p.Gln2020SerfsTer20