Canonical Allele Identifier: CA2202917112

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730057_3730074delinsAGATGGGATCATGGACGG , CM000678.2:g.3730057_3730074delinsAGATGGGATCATGGACGG	GRCh38
NC_000016.9:g.3780058_3780075delinsAGATGGGATCATGGACGG , CM000678.1:g.3780058_3780075delinsAGATGGGATCATGGACGG	GRCh37
NC_000016.8:g.3720059_3720076delinsAGATGGGATCATGGACGG	NCBI36
NG_009873.1:g.155047_155064delinsCCGTCCATGATCCCATCT
NG_009873.2:g.155640_155657delinsCCGTCCATGATCCCATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-200_5173-183delinsCCGTCCATGATCCCATCT MANE Select	ENSP00000262367.5:n.5173-200_5173-183delinsCCGTCCATGATCCCATCT...
ENST00000262367.9:c.5173-200_5173-183delinsCCGTCCATGATCCCATCT	ENSP00000262367.5:n.5173-200_5173-183delinsCCGTCCATGATCCCATCT...
ENST00000382070.7:c.5059-200_5059-183delinsCCGTCCATGATCCCATCT	ENSP00000371502.3:n.5059-200_5059-183delinsCCGTCCATGATCCCATCT...
NM_001079846.1:c.5059-200_5059-183delinsCCGTCCATGATCCCATCT	NP_001073315.1:n.5059-200_5059-183delinsCCGTCCATGATCCCATCT
NM_004380.2:c.5173-200_5173-183delinsCCGTCCATGATCCCATCT	NP_004371.2:n.5173-200_5173-183delinsCCGTCCATGATCCCATCT
XM_005255124.3:c.5128-200_5128-183delinsCCGTCCATGATCCCATCT	XP_005255181.1:n.5128-200_5128-183delinsCCGTCCATGATCCCATCT
XM_005255125.3:c.4756-200_4756-183delinsCCGTCCATGATCCCATCT	XP_005255182.1:n.4756-200_4756-183delinsCCGTCCATGATCCCATCT
XM_006720848.2:c.4912-200_4912-183delinsCCGTCCATGATCCCATCT	XP_006720911.1:n.4912-200_4912-183delinsCCGTCCATGATCCCATCT
XM_011522380.1:c.5119-200_5119-183delinsCCGTCCATGATCCCATCT	XP_011520682.1:n.5119-200_5119-183delinsCCGTCCATGATCCCATCT
XM_011522381.1:c.4420-200_4420-183delinsCCGTCCATGATCCCATCT	XP_011520683.1:n.4420-200_4420-183delinsCCGTCCATGATCCCATCT
XM_005255124.4:c.5128-200_5128-183delinsCCGTCCATGATCCCATCT	XP_005255181.1:n.5128-200_5128-183delinsCCGTCCATGATCCCATCT
XM_005255125.4:c.4756-200_4756-183delinsCCGTCCATGATCCCATCT	XP_005255182.1:n.4756-200_4756-183delinsCCGTCCATGATCCCATCT
XM_006720848.3:c.4912-200_4912-183delinsCCGTCCATGATCCCATCT	XP_006720911.1:n.4912-200_4912-183delinsCCGTCCATGATCCCATCT
XM_011522381.2:c.4420-200_4420-183delinsCCGTCCATGATCCCATCT	XP_011520683.1:n.4420-200_4420-183delinsCCGTCCATGATCCCATCT
XM_017022944.1:c.5167-200_5167-183delinsCCGTCCATGATCCCATCT	XP_016878433.1:n.5167-200_5167-183delinsCCGTCCATGATCCCATCT
NM_004380.3:c.5173-200_5173-183delinsCCGTCCATGATCCCATCT MANE Select	NP_004371.2:n.5173-200_5173-183delinsCCGTCCATGATCCCATCT