Canonical Allele Identifier: CA2631403624

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729208-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729209del , CM000678.2:g.3729209del	GRCh38
NC_000016.9:g.3779210del , CM000678.1:g.3779210del	GRCh37
NC_000016.8:g.3719211del	NCBI36
NG_009873.1:g.155912del
NG_009873.2:g.156505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5838del MANE Select	ENSP00000262367.5:p.Pro1948ArgfsTer28
ENST00000262367.9:c.5838del	ENSP00000262367.5:p.Pro1948ArgfsTer28
ENST00000382070.7:c.5724del	ENSP00000371502.3:p.Pro1910ArgfsTer28
NM_001079846.1:c.5724del	NP_001073315.1:p.Pro1910ArgfsTer28
NM_004380.2:c.5838del	NP_004371.2:p.Pro1948ArgfsTer28
XM_005255124.3:c.5793del	XP_005255181.1:p.Pro1933ArgfsTer28
XM_005255125.3:c.5421del	XP_005255182.1:p.Pro1809ArgfsTer28
XM_006720848.2:c.5577del	XP_006720911.1:p.Pro1861ArgfsTer28
XM_011522380.1:c.5784del	XP_011520682.1:p.Pro1930ArgfsTer28
XM_011522381.1:c.5085del	XP_011520683.1:p.Pro1697ArgfsTer28
XM_005255124.4:c.5793del	XP_005255181.1:p.Pro1933ArgfsTer28
XM_005255125.4:c.5421del	XP_005255182.1:p.Pro1809ArgfsTer28
XM_006720848.3:c.5577del	XP_006720911.1:p.Pro1861ArgfsTer28
XM_011522381.2:c.5085del	XP_011520683.1:p.Pro1697ArgfsTer28
XM_017022944.1:c.5832del	XP_016878433.1:p.Pro1946ArgfsTer28
NM_004380.3:c.5838del MANE Select	NP_004371.2:p.Pro1948ArgfsTer28