Canonical Allele Identifier: CA271422
Gene: CREBBP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3731877del , CM000678.2:g.3731877del GRCh38
NC_000016.9:g.3781878del , CM000678.1:g.3781878del GRCh37
NC_000016.8:g.3721879del NCBI36
NG_009873.1:g.153247del
NG_009873.2:g.153840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4792del MANE Select ENSP00000262367.5:p.Ser1598AlafsTer?
ENST00000262367.9:c.4792del ENSP00000262367.5:p.Ser1598AlafsTer?
ENST00000382070.7:c.4678del ENSP00000371502.3:p.Ser1560AlafsTer?
NM_001079846.1:c.4678del NP_001073315.1:p.Ser1560AlafsTer?
NM_004380.2:c.4792del NP_004371.2:p.Ser1598AlafsTer?
XM_005255124.3:c.4747del XP_005255181.1:p.Ser1583AlafsTer?
XM_005255125.3:c.4375del XP_005255182.1:p.Ser1459AlafsTer?
XM_006720848.2:c.4531del XP_006720911.1:p.Ser1511AlafsTer?
XM_011522380.1:c.4738del XP_011520682.1:p.Ser1580AlafsTer?
XM_011522381.1:c.4039del XP_011520683.1:p.Ser1347AlafsTer?
XM_005255124.4:c.4747del XP_005255181.1:p.Ser1583AlafsTer?
XM_005255125.4:c.4375del XP_005255182.1:p.Ser1459AlafsTer?
XM_006720848.3:c.4531del XP_006720911.1:p.Ser1511AlafsTer?
XM_011522381.2:c.4039del XP_011520683.1:p.Ser1347AlafsTer?
XM_017022944.1:c.4786del XP_016878433.1:p.Ser1596AlafsTer?
NM_004380.3:c.4792del MANE Select NP_004371.2:p.Ser1598AlafsTer?
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