Canonical Allele Identifier: CA271376
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158348
ClinVar RCV Id: RCV000145726
dbSNP Id: rs587783473
MyVariant Identifiers: chr16:g.3820844_3820845del (hg19) chr16:g.3770843_3770844del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3770847_3770848del , CM000678.2:g.3770847_3770848del GRCh38
NC_000016.9:g.3820848_3820849del , CM000678.1:g.3820848_3820849del GRCh37
NC_000016.8:g.3760849_3760850del NCBI36
NG_009873.1:g.114277_114278del
NG_009873.2:g.114870_114871del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.2606_2607del MANE Select ENSP00000262367.5:p.Leu869ProfsTer?
ENST00000262367.9:c.2606_2607del ENSP00000262367.5:p.Leu869ProfsTer?
ENST00000382070.7:c.2492_2493del ENSP00000371502.3:p.Leu831ProfsTer?
ENST00000570939.2:c.1211_1212del ENSP00000461002.2:p.Leu404ProfsTer?
NM_001079846.1:c.2492_2493del NP_001073315.1:p.Leu831ProfsTer?
NM_004380.2:c.2606_2607del NP_004371.2:p.Leu869ProfsTer?
XM_005255124.3:c.2561_2562del XP_005255181.1:p.Leu854ProfsTer?
XM_005255125.3:c.2464-1491_2464-1490del XP_005255182.1:n.2464-1491_2464-1490del
XM_006720848.2:c.2606_2607del XP_006720911.1:p.Leu869ProfsTer?
XM_011522380.1:c.2552_2553del XP_011520682.1:p.Leu851ProfsTer?
XM_011522381.1:c.1853_1854del XP_011520683.1:p.Leu618ProfsTer?
XM_011522382.1:c.2606_2607del XP_011520684.1:p.Leu869ProfsTer?
XM_005255124.4:c.2561_2562del XP_005255181.1:p.Leu854ProfsTer?
XM_005255125.4:c.2464-1491_2464-1490del XP_005255182.1:n.2464-1491_2464-1490del
XM_006720848.3:c.2606_2607del XP_006720911.1:p.Leu869ProfsTer?
XM_011522381.2:c.1853_1854del XP_011520683.1:p.Leu618ProfsTer?
XM_011522382.3:c.2606_2607del XP_011520684.1:p.Leu869ProfsTer?
XM_017022944.1:c.2600_2601del XP_016878433.1:p.Leu867ProfsTer?
NM_004380.3:c.2606_2607del MANE Select NP_004371.2:p.Leu869ProfsTer?
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