Canonical Allele Identifier: CA271370
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158344
ClinVar RCV Id: RCV000145722
dbSNP Id: rs587783469
MyVariant Identifiers: chr16:g.3828099del (hg19) chr16:g.3778098del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778098del , CM000678.2:g.3778098del GRCh38
NC_000016.9:g.3828099del , CM000678.1:g.3828099del GRCh37
NC_000016.8:g.3768100del NCBI36
NG_009873.1:g.107023del
NG_009873.2:g.107616del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.2026del MANE Select ENSP00000262367.5:p.Gln676LysfsTer19
ENST00000262367.9:c.2026del ENSP00000262367.5:p.Gln676LysfsTer19
ENST00000382070.7:c.1912del ENSP00000371502.3:p.Gln638LysfsTer19
ENST00000570939.2:c.631del ENSP00000461002.2:p.Gln211LysfsTer19
ENST00000571826.5:c.75del
ENST00000572134.1:c.339del
ENST00000634839.1:n.188del
NM_001079846.1:c.1912del NP_001073315.1:p.Gln638LysfsTer19
NM_004380.2:c.2026del NP_004371.2:p.Gln676LysfsTer19
XM_005255124.3:c.2026del XP_005255181.1:p.Gln676LysfsTer19
XM_005255125.3:c.2026del XP_005255182.1:p.Gln676LysfsTer19
XM_006720848.2:c.2026del XP_006720911.1:p.Gln676LysfsTer19
XM_011522380.1:c.1972del XP_011520682.1:p.Gln658LysfsTer19
XM_011522381.1:c.1273del XP_011520683.1:p.Gln425LysfsTer19
XM_011522382.1:c.2026del XP_011520684.1:p.Gln676LysfsTer19
XM_005255124.4:c.2026del XP_005255181.1:p.Gln676LysfsTer19
XM_005255125.4:c.2026del XP_005255182.1:p.Gln676LysfsTer19
XM_006720848.3:c.2026del XP_006720911.1:p.Gln676LysfsTer19
XM_011522381.2:c.1273del XP_011520683.1:p.Gln425LysfsTer19
XM_011522382.3:c.2026del XP_011520684.1:p.Gln676LysfsTer19
XM_017022944.1:c.2026del XP_016878433.1:p.Gln676LysfsTer19
NM_004380.3:c.2026del MANE Select NP_004371.2:p.Gln676LysfsTer19
Search 100 bp 5'
Search 100 bp 3'