Canonical Allele Identifier: CA271367
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158341
ClinVar RCV Id: RCV000145719
dbSNP Id: rs587783467
MyVariant Identifiers: chr16:g.3830735del (hg19) chr16:g.3780734del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3780736del , CM000678.2:g.3780736del GRCh38
NC_000016.9:g.3830737del , CM000678.1:g.3830737del GRCh37
NC_000016.8:g.3770738del NCBI36
NG_009873.1:g.104387del
NG_009873.2:g.104980del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.1821del MANE Select ENSP00000262367.5:p.Lys607AsnfsTer15
ENST00000262367.9:c.1821del ENSP00000262367.5:p.Lys607AsnfsTer15
ENST00000382070.7:c.1707del ENSP00000371502.3:p.Lys569AsnfsTer15
ENST00000570939.2:c.426del ENSP00000461002.2:p.Lys142AsnfsTer15
ENST00000572134.1:c.134del
NM_001079846.1:c.1707del NP_001073315.1:p.Lys569AsnfsTer15
NM_004380.2:c.1821del NP_004371.2:p.Lys607AsnfsTer15
XM_005255124.3:c.1821del XP_005255181.1:p.Lys607AsnfsTer15
XM_005255125.3:c.1821del XP_005255182.1:p.Lys607AsnfsTer15
XM_006720848.2:c.1821del XP_006720911.1:p.Lys607AsnfsTer15
XM_011522380.1:c.1767del XP_011520682.1:p.Lys589AsnfsTer15
XM_011522381.1:c.1068del XP_011520683.1:p.Lys356AsnfsTer15
XM_011522382.1:c.1821del XP_011520684.1:p.Lys607AsnfsTer15
XM_005255124.4:c.1821del XP_005255181.1:p.Lys607AsnfsTer15
XM_005255125.4:c.1821del XP_005255182.1:p.Lys607AsnfsTer15
XM_006720848.3:c.1821del XP_006720911.1:p.Lys607AsnfsTer15
XM_011522381.2:c.1068del XP_011520683.1:p.Lys356AsnfsTer15
XM_011522382.3:c.1821del XP_011520684.1:p.Lys607AsnfsTer15
XM_017022944.1:c.1821del XP_016878433.1:p.Lys607AsnfsTer15
NM_004380.3:c.1821del MANE Select NP_004371.2:p.Lys607AsnfsTer15
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