Canonical Allele Identifier: CA2695222737
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728797del , CM000678.2:g.3728797del GRCh38
NC_000016.9:g.3778798del , CM000678.1:g.3778798del GRCh37
NC_000016.8:g.3718799del NCBI36
NG_009873.1:g.156324del
NG_009873.2:g.156917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6250del MANE Select ENSP00000262367.5:p.Gln2084SerfsTer4
ENST00000262367.9:c.6250del ENSP00000262367.5:p.Gln2084SerfsTer4
ENST00000382070.7:c.6136del ENSP00000371502.3:p.Gln2046SerfsTer4
NM_001079846.1:c.6136del NP_001073315.1:p.Gln2046SerfsTer4
NM_004380.2:c.6250del NP_004371.2:p.Gln2084SerfsTer4
XM_005255124.3:c.6205del XP_005255181.1:p.Gln2069SerfsTer4
XM_005255125.3:c.5833del XP_005255182.1:p.Gln1945SerfsTer4
XM_006720848.2:c.5989del XP_006720911.1:p.Gln1997SerfsTer4
XM_011522380.1:c.6196del XP_011520682.1:p.Gln2066SerfsTer4
XM_011522381.1:c.5497del XP_011520683.1:p.Gln1833SerfsTer4
XM_005255124.4:c.6205del XP_005255181.1:p.Gln2069SerfsTer4
XM_005255125.4:c.5833del XP_005255182.1:p.Gln1945SerfsTer4
XM_006720848.3:c.5989del XP_006720911.1:p.Gln1997SerfsTer4
XM_011522381.2:c.5497del XP_011520683.1:p.Gln1833SerfsTer4
XM_017022944.1:c.6244del XP_016878433.1:p.Gln2082SerfsTer4
NM_004380.3:c.6250del MANE Select NP_004371.2:p.Gln2084SerfsTer4