Canonical Allele Identifier: CA271421
Gene: CREBBP HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736076del , CM000678.2:g.3736076del GRCh38
NC_000016.9:g.3786077del , CM000678.1:g.3786077del GRCh37
NC_000016.8:g.3726078del NCBI36
NG_009873.1:g.149046del
NG_009873.2:g.149639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4689del MANE Select ENSP00000262367.5:p.Lys1565ArgfsTer?
ENST00000262367.9:c.4689del ENSP00000262367.5:p.Lys1565ArgfsTer?
ENST00000382070.7:c.4575del ENSP00000371502.3:p.Lys1527ArgfsTer?
ENST00000571763.5:n.479del
ENST00000576720.1:n.3512del
NM_001079846.1:c.4575del NP_001073315.1:p.Lys1527ArgfsTer?
NM_004380.2:c.4689del NP_004371.2:p.Lys1565ArgfsTer?
XM_005255124.3:c.4644del XP_005255181.1:p.Lys1550ArgfsTer?
XM_005255125.3:c.4272del XP_005255182.1:p.Lys1426ArgfsTer?
XM_006720848.2:c.4428del XP_006720911.1:p.Lys1478ArgfsTer?
XM_011522380.1:c.4635del XP_011520682.1:p.Lys1547ArgfsTer?
XM_011522381.1:c.3936del XP_011520683.1:p.Lys1314ArgfsTer?
XM_005255124.4:c.4644del XP_005255181.1:p.Lys1550ArgfsTer?
XM_005255125.4:c.4272del XP_005255182.1:p.Lys1426ArgfsTer?
XM_006720848.3:c.4428del XP_006720911.1:p.Lys1478ArgfsTer?
XM_011522381.2:c.3936del XP_011520683.1:p.Lys1314ArgfsTer?
XM_017022944.1:c.4683del XP_016878433.1:p.Lys1563ArgfsTer?
NM_004380.3:c.4689del MANE Select NP_004371.2:p.Lys1565ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'