Canonical Allele Identifier: CA277328
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 210785
ClinVar RCV Id: RCV000194469
dbSNP Id: rs797045499

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728931_3728940del , CM000678.2:g.3728931_3728940del GRCh38
NC_000016.9:g.3778932_3778941del , CM000678.1:g.3778932_3778941del GRCh37
NC_000016.8:g.3718933_3718942del NCBI36
NG_009873.1:g.156181_156190del
NG_009873.2:g.156774_156783del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.6107_6116del MANE Select ENSP00000262367.5:p.Pro2036ArgfsTer?
ENST00000262367.9:c.6107_6116del ENSP00000262367.5:p.Pro2036ArgfsTer?
ENST00000382070.7:c.5993_6002del ENSP00000371502.3:p.Pro1998ArgfsTer?
NM_001079846.1:c.5993_6002del NP_001073315.1:p.Pro1998ArgfsTer?
NM_004380.2:c.6107_6116del NP_004371.2:p.Pro2036ArgfsTer?
XM_005255124.3:c.6062_6071del XP_005255181.1:p.Pro2021ArgfsTer?
XM_005255125.3:c.5690_5699del XP_005255182.1:p.Pro1897ArgfsTer?
XM_006720848.2:c.5846_5855del XP_006720911.1:p.Pro1949ArgfsTer?
XM_011522380.1:c.6053_6062del XP_011520682.1:p.Pro2018ArgfsTer?
XM_011522381.1:c.5354_5363del XP_011520683.1:p.Pro1785ArgfsTer?
XM_005255124.4:c.6062_6071del XP_005255181.1:p.Pro2021ArgfsTer?
XM_005255125.4:c.5690_5699del XP_005255182.1:p.Pro1897ArgfsTer?
XM_006720848.3:c.5846_5855del XP_006720911.1:p.Pro1949ArgfsTer?
XM_011522381.2:c.5354_5363del XP_011520683.1:p.Pro1785ArgfsTer?
XM_017022944.1:c.6101_6110del XP_016878433.1:p.Pro2034ArgfsTer?
NM_004380.3:c.6107_6116del MANE Select NP_004371.2:p.Pro2036ArgfsTer?