Canonical Allele Identifier: CA2202917160

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730073_3730090delinsGGGATGGGATCATGGACA , CM000678.2:g.3730073_3730090delinsGGGATGGGATCATGGACA	GRCh38
NC_000016.9:g.3780074_3780091delinsGGGATGGGATCATGGACA , CM000678.1:g.3780074_3780091delinsGGGATGGGATCATGGACA	GRCh37
NC_000016.8:g.3720075_3720092delinsGGGATGGGATCATGGACA	NCBI36
NG_009873.1:g.155031_155048delinsTGTCCATGATCCCATCCC
NG_009873.2:g.155624_155641delinsTGTCCATGATCCCATCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-216_5173-199delinsTGTCCATGATCCCATCCC MANE Select	ENSP00000262367.5:n.5173-216_5173-199delinsTGTCCATGATCCCATCCC...
ENST00000262367.9:c.5173-216_5173-199delinsTGTCCATGATCCCATCCC	ENSP00000262367.5:n.5173-216_5173-199delinsTGTCCATGATCCCATCCC...
ENST00000382070.7:c.5059-216_5059-199delinsTGTCCATGATCCCATCCC	ENSP00000371502.3:n.5059-216_5059-199delinsTGTCCATGATCCCATCCC...
NM_001079846.1:c.5059-216_5059-199delinsTGTCCATGATCCCATCCC	NP_001073315.1:n.5059-216_5059-199delinsTGTCCATGATCCCATCCC
NM_004380.2:c.5173-216_5173-199delinsTGTCCATGATCCCATCCC	NP_004371.2:n.5173-216_5173-199delinsTGTCCATGATCCCATCCC
XM_005255124.3:c.5128-216_5128-199delinsTGTCCATGATCCCATCCC	XP_005255181.1:n.5128-216_5128-199delinsTGTCCATGATCCCATCCC
XM_005255125.3:c.4756-216_4756-199delinsTGTCCATGATCCCATCCC	XP_005255182.1:n.4756-216_4756-199delinsTGTCCATGATCCCATCCC
XM_006720848.2:c.4912-216_4912-199delinsTGTCCATGATCCCATCCC	XP_006720911.1:n.4912-216_4912-199delinsTGTCCATGATCCCATCCC
XM_011522380.1:c.5119-216_5119-199delinsTGTCCATGATCCCATCCC	XP_011520682.1:n.5119-216_5119-199delinsTGTCCATGATCCCATCCC
XM_011522381.1:c.4420-216_4420-199delinsTGTCCATGATCCCATCCC	XP_011520683.1:n.4420-216_4420-199delinsTGTCCATGATCCCATCCC
XM_005255124.4:c.5128-216_5128-199delinsTGTCCATGATCCCATCCC	XP_005255181.1:n.5128-216_5128-199delinsTGTCCATGATCCCATCCC
XM_005255125.4:c.4756-216_4756-199delinsTGTCCATGATCCCATCCC	XP_005255182.1:n.4756-216_4756-199delinsTGTCCATGATCCCATCCC
XM_006720848.3:c.4912-216_4912-199delinsTGTCCATGATCCCATCCC	XP_006720911.1:n.4912-216_4912-199delinsTGTCCATGATCCCATCCC
XM_011522381.2:c.4420-216_4420-199delinsTGTCCATGATCCCATCCC	XP_011520683.1:n.4420-216_4420-199delinsTGTCCATGATCCCATCCC
XM_017022944.1:c.5167-216_5167-199delinsTGTCCATGATCCCATCCC	XP_016878433.1:n.5167-216_5167-199delinsTGTCCATGATCCCATCCC
NM_004380.3:c.5173-216_5173-199delinsTGTCCATGATCCCATCCC MANE Select	NP_004371.2:n.5173-216_5173-199delinsTGTCCATGATCCCATCCC