Canonical Allele Identifier: CA2695222618

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728979_3728985del , CM000678.2:g.3728979_3728985del	GRCh38
NC_000016.9:g.3778980_3778986del , CM000678.1:g.3778980_3778986del	GRCh37
NC_000016.8:g.3718981_3718987del	NCBI36
NG_009873.1:g.156139_156145del
NG_009873.2:g.156732_156738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6065_6071del MANE Select	ENSP00000262367.5:p.Gln2022ArgfsTer16
ENST00000262367.9:c.6065_6071del	ENSP00000262367.5:p.Gln2022ArgfsTer16
ENST00000382070.7:c.5951_5957del	ENSP00000371502.3:p.Gln1984ArgfsTer16
NM_001079846.1:c.5951_5957del	NP_001073315.1:p.Gln1984ArgfsTer16
NM_004380.2:c.6065_6071del	NP_004371.2:p.Gln2022ArgfsTer16
XM_005255124.3:c.6020_6026del	XP_005255181.1:p.Gln2007ArgfsTer16
XM_005255125.3:c.5648_5654del	XP_005255182.1:p.Gln1883ArgfsTer16
XM_006720848.2:c.5804_5810del	XP_006720911.1:p.Gln1935ArgfsTer16
XM_011522380.1:c.6011_6017del	XP_011520682.1:p.Gln2004ArgfsTer16
XM_011522381.1:c.5312_5318del	XP_011520683.1:p.Gln1771ArgfsTer16
XM_005255124.4:c.6020_6026del	XP_005255181.1:p.Gln2007ArgfsTer16
XM_005255125.4:c.5648_5654del	XP_005255182.1:p.Gln1883ArgfsTer16
XM_006720848.3:c.5804_5810del	XP_006720911.1:p.Gln1935ArgfsTer16
XM_011522381.2:c.5312_5318del	XP_011520683.1:p.Gln1771ArgfsTer16
XM_017022944.1:c.6059_6065del	XP_016878433.1:p.Gln2020ArgfsTer16
NM_004380.3:c.6065_6071del MANE Select	NP_004371.2:p.Gln2022ArgfsTer16