Canonical Allele Identifier: CA2695222620

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729004del , CM000678.2:g.3729004del	GRCh38
NC_000016.9:g.3779005del , CM000678.1:g.3779005del	GRCh37
NC_000016.8:g.3719006del	NCBI36
NG_009873.1:g.156117del
NG_009873.2:g.156710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6043del MANE Select	ENSP00000262367.5:p.Ser2015AlafsTer25
ENST00000262367.9:c.6043del	ENSP00000262367.5:p.Ser2015AlafsTer25
ENST00000382070.7:c.5929del	ENSP00000371502.3:p.Ser1977AlafsTer25
NM_001079846.1:c.5929del	NP_001073315.1:p.Ser1977AlafsTer25
NM_004380.2:c.6043del	NP_004371.2:p.Ser2015AlafsTer25
XM_005255124.3:c.5998del	XP_005255181.1:p.Ser2000AlafsTer25
XM_005255125.3:c.5626del	XP_005255182.1:p.Ser1876AlafsTer25
XM_006720848.2:c.5782del	XP_006720911.1:p.Ser1928AlafsTer25
XM_011522380.1:c.5989del	XP_011520682.1:p.Ser1997AlafsTer25
XM_011522381.1:c.5290del	XP_011520683.1:p.Ser1764AlafsTer25
XM_005255124.4:c.5998del	XP_005255181.1:p.Ser2000AlafsTer25
XM_005255125.4:c.5626del	XP_005255182.1:p.Ser1876AlafsTer25
XM_006720848.3:c.5782del	XP_006720911.1:p.Ser1928AlafsTer25
XM_011522381.2:c.5290del	XP_011520683.1:p.Ser1764AlafsTer25
XM_017022944.1:c.6037del	XP_016878433.1:p.Ser2013AlafsTer25
NM_004380.3:c.6043del MANE Select	NP_004371.2:p.Ser2015AlafsTer25