Canonical Allele Identifier: CA16603188
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 376855
ClinVar RCV Id: RCV000435770
dbSNP Id: rs1057520072
MyVariant Identifiers: chr16:g.3808883del (hg19) chr16:g.3758882del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3758883del , CM000678.2:g.3758883del GRCh38
NC_000016.9:g.3808884del , CM000678.1:g.3808884del GRCh37
NC_000016.8:g.3748885del NCBI36
NG_009873.1:g.126239del
NG_009873.2:g.126832del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3341del MANE Select ENSP00000262367.5:p.Pro1114LeufsTer2
ENST00000262367.9:c.3341del ENSP00000262367.5:p.Pro1114LeufsTer2
ENST00000382070.7:c.3227del ENSP00000371502.3:p.Pro1076LeufsTer2
ENST00000570939.2:c.1946del ENSP00000461002.2:p.Pro649LeufsTer2
NM_001079846.1:c.3227del NP_001073315.1:p.Pro1076LeufsTer2
NM_004380.2:c.3341del NP_004371.2:p.Pro1114LeufsTer2
XM_005255124.3:c.3296del XP_005255181.1:p.Pro1099LeufsTer2
XM_005255125.3:c.2924del XP_005255182.1:p.Pro975LeufsTer2
XM_006720848.2:c.3341del XP_006720911.1:p.Pro1114LeufsTer2
XM_011522380.1:c.3287del XP_011520682.1:p.Pro1096LeufsTer2
XM_011522381.1:c.2588del XP_011520683.1:p.Pro863LeufsTer2
XM_011522382.1:c.3341del XP_011520684.1:p.Pro1114LeufsTer2
XM_005255124.4:c.3296del XP_005255181.1:p.Pro1099LeufsTer2
XM_005255125.4:c.2924del XP_005255182.1:p.Pro975LeufsTer2
XM_006720848.3:c.3341del XP_006720911.1:p.Pro1114LeufsTer2
XM_011522381.2:c.2588del XP_011520683.1:p.Pro863LeufsTer2
XM_011522382.3:c.3341del XP_011520684.1:p.Pro1114LeufsTer2
XM_017022944.1:c.3335del XP_016878433.1:p.Pro1112LeufsTer2
NM_004380.3:c.3341del MANE Select NP_004371.2:p.Pro1114LeufsTer2
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