Canonical Allele Identifier: CA2695222739

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728857del , CM000678.2:g.3728857del	GRCh38
NC_000016.9:g.3778858del , CM000678.1:g.3778858del	GRCh37
NC_000016.8:g.3718859del	NCBI36
NG_009873.1:g.156266del
NG_009873.2:g.156859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6192del MANE Select	ENSP00000262367.5:p.Ser2065AlafsTer10
ENST00000262367.9:c.6192del	ENSP00000262367.5:p.Ser2065AlafsTer10
ENST00000382070.7:c.6078del	ENSP00000371502.3:p.Ser2027AlafsTer10
NM_001079846.1:c.6078del	NP_001073315.1:p.Ser2027AlafsTer10
NM_004380.2:c.6192del	NP_004371.2:p.Ser2065AlafsTer10
XM_005255124.3:c.6147del	XP_005255181.1:p.Ser2050AlafsTer10
XM_005255125.3:c.5775del	XP_005255182.1:p.Ser1926AlafsTer10
XM_006720848.2:c.5931del	XP_006720911.1:p.Ser1978AlafsTer10
XM_011522380.1:c.6138del	XP_011520682.1:p.Ser2047AlafsTer10
XM_011522381.1:c.5439del	XP_011520683.1:p.Ser1814AlafsTer10
XM_005255124.4:c.6147del	XP_005255181.1:p.Ser2050AlafsTer10
XM_005255125.4:c.5775del	XP_005255182.1:p.Ser1926AlafsTer10
XM_006720848.3:c.5931del	XP_006720911.1:p.Ser1978AlafsTer10
XM_011522381.2:c.5439del	XP_011520683.1:p.Ser1814AlafsTer10
XM_017022944.1:c.6186del	XP_016878433.1:p.Ser2063AlafsTer10
NM_004380.3:c.6192del MANE Select	NP_004371.2:p.Ser2065AlafsTer10