Canonical Allele Identifier: CA275120
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 195820
ClinVar RCV Id: RCV000176482
dbSNP Id: rs794727391
MyVariant Identifiers: chr16:g.3790540del (hg19) chr16:g.3740539del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3740540del , CM000678.2:g.3740540del GRCh38
NC_000016.9:g.3790541del , CM000678.1:g.3790541del GRCh37
NC_000016.8:g.3730542del NCBI36
NG_009873.1:g.144582del
NG_009873.2:g.145175del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3993del MANE Select ENSP00000262367.5:p.Thr1332GlnfsTer11
ENST00000262367.9:c.3993del ENSP00000262367.5:p.Thr1332GlnfsTer11
ENST00000382070.7:c.3879del ENSP00000371502.3:p.Thr1294GlnfsTer11
ENST00000570939.2:c.2628del ENSP00000461002.2:p.Thr877GlnfsTer11
ENST00000572569.1:n.457del
ENST00000573517.6:c.299del
ENST00000574740.1:n.75del
ENST00000576720.1:n.2930del
NM_001079846.1:c.3879del NP_001073315.1:p.Thr1294GlnfsTer11
NM_004380.2:c.3993del NP_004371.2:p.Thr1332GlnfsTer11
XM_005255124.3:c.3948del XP_005255181.1:p.Thr1317GlnfsTer11
XM_005255125.3:c.3576del XP_005255182.1:p.Thr1193GlnfsTer11
XM_006720848.2:c.3993del XP_006720911.1:p.Thr1332GlnfsTer11
XM_011522380.1:c.3939del XP_011520682.1:p.Thr1314GlnfsTer11
XM_011522381.1:c.3240del XP_011520683.1:p.Thr1081GlnfsTer11
XM_005255124.4:c.3948del XP_005255181.1:p.Thr1317GlnfsTer11
XM_005255125.4:c.3576del XP_005255182.1:p.Thr1193GlnfsTer11
XM_006720848.3:c.3993del XP_006720911.1:p.Thr1332GlnfsTer11
XM_011522381.2:c.3240del XP_011520683.1:p.Thr1081GlnfsTer11
XM_017022944.1:c.3987del XP_016878433.1:p.Thr1330GlnfsTer11
NM_004380.3:c.3993del MANE Select NP_004371.2:p.Thr1332GlnfsTer11
Search 100 bp 5'
Search 100 bp 3'