Canonical Allele Identifier: CA2202916899

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729956_3729958delinsTAA , CM000678.2:g.3729956_3729958delinsTAA	GRCh38
NC_000016.9:g.3779957_3779959delinsTAA , CM000678.1:g.3779957_3779959delinsTAA	GRCh37
NC_000016.8:g.3719958_3719960delinsTAA	NCBI36
NG_009873.1:g.155163_155165delinsTTA
NG_009873.2:g.155756_155758delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-84_5173-82delinsTTA MANE Select	ENSP00000262367.5:n.5173-84_5173-82delinsTTA
ENST00000262367.9:c.5173-84_5173-82delinsTTA	ENSP00000262367.5:n.5173-84_5173-82delinsTTA
ENST00000382070.7:c.5059-84_5059-82delinsTTA	ENSP00000371502.3:n.5059-84_5059-82delinsTTA
NM_001079846.1:c.5059-84_5059-82delinsTTA	NP_001073315.1:n.5059-84_5059-82delinsTTA
NM_004380.2:c.5173-84_5173-82delinsTTA	NP_004371.2:n.5173-84_5173-82delinsTTA
XM_005255124.3:c.5128-84_5128-82delinsTTA	XP_005255181.1:n.5128-84_5128-82delinsTTA
XM_005255125.3:c.4756-84_4756-82delinsTTA	XP_005255182.1:n.4756-84_4756-82delinsTTA
XM_006720848.2:c.4912-84_4912-82delinsTTA	XP_006720911.1:n.4912-84_4912-82delinsTTA
XM_011522380.1:c.5119-84_5119-82delinsTTA	XP_011520682.1:n.5119-84_5119-82delinsTTA
XM_011522381.1:c.4420-84_4420-82delinsTTA	XP_011520683.1:n.4420-84_4420-82delinsTTA
XM_005255124.4:c.5128-84_5128-82delinsTTA	XP_005255181.1:n.5128-84_5128-82delinsTTA
XM_005255125.4:c.4756-84_4756-82delinsTTA	XP_005255182.1:n.4756-84_4756-82delinsTTA
XM_006720848.3:c.4912-84_4912-82delinsTTA	XP_006720911.1:n.4912-84_4912-82delinsTTA
XM_011522381.2:c.4420-84_4420-82delinsTTA	XP_011520683.1:n.4420-84_4420-82delinsTTA
XM_017022944.1:c.5167-84_5167-82delinsTTA	XP_016878433.1:n.5167-84_5167-82delinsTTA
NM_004380.3:c.5173-84_5173-82delinsTTA MANE Select	NP_004371.2:n.5173-84_5173-82delinsTTA