Canonical Allele Identifier: CA2202917177
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3730075_3730092delinsGATGGGATCATGGACAAC , CM000678.2:g.3730075_3730092delinsGATGGGATCATGGACAAC GRCh38
NC_000016.9:g.3780076_3780093delinsGATGGGATCATGGACAAC , CM000678.1:g.3780076_3780093delinsGATGGGATCATGGACAAC GRCh37
NC_000016.8:g.3720077_3720094delinsGATGGGATCATGGACAAC NCBI36
NG_009873.1:g.155029_155046delinsGTTGTCCATGATCCCATC
NG_009873.2:g.155622_155639delinsGTTGTCCATGATCCCATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5173-218_5173-201delinsGTTGTCCATGATCCCATC MANE Select ENSP00000262367.5:n.5173-218_5173-201delinsGTTGTCCATGATCCCATC...
ENST00000262367.9:c.5173-218_5173-201delinsGTTGTCCATGATCCCATC ENSP00000262367.5:n.5173-218_5173-201delinsGTTGTCCATGATCCCATC...
ENST00000382070.7:c.5059-218_5059-201delinsGTTGTCCATGATCCCATC ENSP00000371502.3:n.5059-218_5059-201delinsGTTGTCCATGATCCCATC...
NM_001079846.1:c.5059-218_5059-201delinsGTTGTCCATGATCCCATC NP_001073315.1:n.5059-218_5059-201delinsGTTGTCCATGATCCCATC
NM_004380.2:c.5173-218_5173-201delinsGTTGTCCATGATCCCATC NP_004371.2:n.5173-218_5173-201delinsGTTGTCCATGATCCCATC
XM_005255124.3:c.5128-218_5128-201delinsGTTGTCCATGATCCCATC XP_005255181.1:n.5128-218_5128-201delinsGTTGTCCATGATCCCATC
XM_005255125.3:c.4756-218_4756-201delinsGTTGTCCATGATCCCATC XP_005255182.1:n.4756-218_4756-201delinsGTTGTCCATGATCCCATC
XM_006720848.2:c.4912-218_4912-201delinsGTTGTCCATGATCCCATC XP_006720911.1:n.4912-218_4912-201delinsGTTGTCCATGATCCCATC
XM_011522380.1:c.5119-218_5119-201delinsGTTGTCCATGATCCCATC XP_011520682.1:n.5119-218_5119-201delinsGTTGTCCATGATCCCATC
XM_011522381.1:c.4420-218_4420-201delinsGTTGTCCATGATCCCATC XP_011520683.1:n.4420-218_4420-201delinsGTTGTCCATGATCCCATC
XM_005255124.4:c.5128-218_5128-201delinsGTTGTCCATGATCCCATC XP_005255181.1:n.5128-218_5128-201delinsGTTGTCCATGATCCCATC
XM_005255125.4:c.4756-218_4756-201delinsGTTGTCCATGATCCCATC XP_005255182.1:n.4756-218_4756-201delinsGTTGTCCATGATCCCATC
XM_006720848.3:c.4912-218_4912-201delinsGTTGTCCATGATCCCATC XP_006720911.1:n.4912-218_4912-201delinsGTTGTCCATGATCCCATC
XM_011522381.2:c.4420-218_4420-201delinsGTTGTCCATGATCCCATC XP_011520683.1:n.4420-218_4420-201delinsGTTGTCCATGATCCCATC
XM_017022944.1:c.5167-218_5167-201delinsGTTGTCCATGATCCCATC XP_016878433.1:n.5167-218_5167-201delinsGTTGTCCATGATCCCATC
NM_004380.3:c.5173-218_5173-201delinsGTTGTCCATGATCCCATC MANE Select NP_004371.2:n.5173-218_5173-201delinsGTTGTCCATGATCCCATC