Canonical Allele Identifier: CA271431
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158390
ClinVar RCV Id: RCV000145771
dbSNP Id: rs587783506
MyVariant Identifiers: chr16:g.3779204_3779214del (hg19) chr16:g.3729203_3729213del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729203_3729213del , CM000678.2:g.3729203_3729213del GRCh38
NC_000016.9:g.3779204_3779214del , CM000678.1:g.3779204_3779214del GRCh37
NC_000016.8:g.3719205_3719215del NCBI36
NG_009873.1:g.155908_155918del
NG_009873.2:g.156501_156511del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.5834_5844del MANE Select ENSP00000262367.5:p.Pro1945ArgfsTer17
ENST00000262367.9:c.5834_5844del ENSP00000262367.5:p.Pro1945ArgfsTer17
ENST00000382070.7:c.5720_5730del ENSP00000371502.3:p.Pro1907ArgfsTer17
NM_001079846.1:c.5720_5730del NP_001073315.1:p.Pro1907ArgfsTer17
NM_004380.2:c.5834_5844del NP_004371.2:p.Pro1945ArgfsTer17
XM_005255124.3:c.5789_5799del XP_005255181.1:p.Pro1930ArgfsTer17
XM_005255125.3:c.5417_5427del XP_005255182.1:p.Pro1806ArgfsTer17
XM_006720848.2:c.5573_5583del XP_006720911.1:p.Pro1858ArgfsTer17
XM_011522380.1:c.5780_5790del XP_011520682.1:p.Pro1927ArgfsTer17
XM_011522381.1:c.5081_5091del XP_011520683.1:p.Pro1694ArgfsTer17
XM_005255124.4:c.5789_5799del XP_005255181.1:p.Pro1930ArgfsTer17
XM_005255125.4:c.5417_5427del XP_005255182.1:p.Pro1806ArgfsTer17
XM_006720848.3:c.5573_5583del XP_006720911.1:p.Pro1858ArgfsTer17
XM_011522381.2:c.5081_5091del XP_011520683.1:p.Pro1694ArgfsTer17
XM_017022944.1:c.5828_5838del XP_016878433.1:p.Pro1943ArgfsTer17
NM_004380.3:c.5834_5844del MANE Select NP_004371.2:p.Pro1945ArgfsTer17
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