Canonical Allele Identifier: CA2202917188

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730077_3730079delinsTGG , CM000678.2:g.3730077_3730079delinsTGG	GRCh38
NC_000016.9:g.3780078_3780080delinsTGG , CM000678.1:g.3780078_3780080delinsTGG	GRCh37
NC_000016.8:g.3720079_3720081delinsTGG	NCBI36
NG_009873.1:g.155042_155044delinsCCA
NG_009873.2:g.155635_155637delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-205_5173-203delinsCCA MANE Select	ENSP00000262367.5:n.5173-205_5173-203delinsCCA
ENST00000262367.9:c.5173-205_5173-203delinsCCA	ENSP00000262367.5:n.5173-205_5173-203delinsCCA
ENST00000382070.7:c.5059-205_5059-203delinsCCA	ENSP00000371502.3:n.5059-205_5059-203delinsCCA
NM_001079846.1:c.5059-205_5059-203delinsCCA	NP_001073315.1:n.5059-205_5059-203delinsCCA
NM_004380.2:c.5173-205_5173-203delinsCCA	NP_004371.2:n.5173-205_5173-203delinsCCA
XM_005255124.3:c.5128-205_5128-203delinsCCA	XP_005255181.1:n.5128-205_5128-203delinsCCA
XM_005255125.3:c.4756-205_4756-203delinsCCA	XP_005255182.1:n.4756-205_4756-203delinsCCA
XM_006720848.2:c.4912-205_4912-203delinsCCA	XP_006720911.1:n.4912-205_4912-203delinsCCA
XM_011522380.1:c.5119-205_5119-203delinsCCA	XP_011520682.1:n.5119-205_5119-203delinsCCA
XM_011522381.1:c.4420-205_4420-203delinsCCA	XP_011520683.1:n.4420-205_4420-203delinsCCA
XM_005255124.4:c.5128-205_5128-203delinsCCA	XP_005255181.1:n.5128-205_5128-203delinsCCA
XM_005255125.4:c.4756-205_4756-203delinsCCA	XP_005255182.1:n.4756-205_4756-203delinsCCA
XM_006720848.3:c.4912-205_4912-203delinsCCA	XP_006720911.1:n.4912-205_4912-203delinsCCA
XM_011522381.2:c.4420-205_4420-203delinsCCA	XP_011520683.1:n.4420-205_4420-203delinsCCA
XM_017022944.1:c.5167-205_5167-203delinsCCA	XP_016878433.1:n.5167-205_5167-203delinsCCA
NM_004380.3:c.5173-205_5173-203delinsCCA MANE Select	NP_004371.2:n.5173-205_5173-203delinsCCA