Canonical Allele Identifier: CA7869066

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728448_3728453del , CM000678.2:g.3728448_3728453del	GRCh38
NC_000016.9:g.3778449_3778454del , CM000678.1:g.3778449_3778454del	GRCh37
NC_000016.8:g.3718450_3718455del	NCBI36
NG_009873.1:g.156677_156682del
NG_009873.2:g.157270_157275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6603_6608del MANE Select	ENSP00000262367.5:p.Gln2202_Gln2203del
ENST00000262367.9:c.6603_6608del	ENSP00000262367.5:p.Gln2202_Gln2203del
ENST00000382070.7:c.6489_6494del	ENSP00000371502.3:p.Gln2164_Gln2165del
NM_001079846.1:c.6489_6494del	NP_001073315.1:p.Gln2164_Gln2165del
NM_004380.2:c.6603_6608del	NP_004371.2:p.Gln2202_Gln2203del
XM_005255124.3:c.6558_6563del	XP_005255181.1:p.Gln2187_Gln2188del
XM_005255125.3:c.6186_6191del	XP_005255182.1:p.Gln2063_Gln2064del
XM_006720848.2:c.6342_6347del	XP_006720911.1:p.Gln2115_Gln2116del
XM_011522380.1:c.6549_6554del	XP_011520682.1:p.Gln2184_Gln2185del
XM_011522381.1:c.5850_5855del	XP_011520683.1:p.Gln1951_Gln1952del
XM_005255124.4:c.6558_6563del	XP_005255181.1:p.Gln2187_Gln2188del
XM_005255125.4:c.6186_6191del	XP_005255182.1:p.Gln2063_Gln2064del
XM_006720848.3:c.6342_6347del	XP_006720911.1:p.Gln2115_Gln2116del
XM_011522381.2:c.5850_5855del	XP_011520683.1:p.Gln1951_Gln1952del
XM_017022944.1:c.6597_6602del	XP_016878433.1:p.Gln2200_Gln2201del
NM_004380.3:c.6603_6608del MANE Select	NP_004371.2:p.Gln2202_Gln2203del