Canonical Allele Identifier: CA16620196
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs1064796056
MyVariant Identifiers: chr16:g.3779425del (hg19) chr16:g.3729424del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729426del , CM000678.2:g.3729426del GRCh38
NC_000016.9:g.3779427del , CM000678.1:g.3779427del GRCh37
NC_000016.8:g.3719428del NCBI36
NG_009873.1:g.155697del
NG_009873.2:g.156290del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.5623del MANE Select ENSP00000262367.5:p.Arg1875AlafsTer?
ENST00000262367.9:c.5623del ENSP00000262367.5:p.Arg1875AlafsTer?
ENST00000382070.7:c.5509del ENSP00000371502.3:p.Arg1837AlafsTer?
NM_001079846.1:c.5509del NP_001073315.1:p.Arg1837AlafsTer?
NM_004380.2:c.5623del NP_004371.2:p.Arg1875AlafsTer?
XM_005255124.3:c.5578del XP_005255181.1:p.Arg1860AlafsTer?
XM_005255125.3:c.5206del XP_005255182.1:p.Arg1736AlafsTer?
XM_006720848.2:c.5362del XP_006720911.1:p.Arg1788AlafsTer?
XM_011522380.1:c.5569del XP_011520682.1:p.Arg1857AlafsTer?
XM_011522381.1:c.4870del XP_011520683.1:p.Arg1624AlafsTer?
XM_005255124.4:c.5578del XP_005255181.1:p.Arg1860AlafsTer?
XM_005255125.4:c.5206del XP_005255182.1:p.Arg1736AlafsTer?
XM_006720848.3:c.5362del XP_006720911.1:p.Arg1788AlafsTer?
XM_011522381.2:c.4870del XP_011520683.1:p.Arg1624AlafsTer?
XM_017022944.1:c.5617del XP_016878433.1:p.Arg1873AlafsTer?
NM_004380.3:c.5623del MANE Select NP_004371.2:p.Arg1875AlafsTer?
Search 100 bp 5'
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