Canonical Allele Identifier: CA2202958654
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778028_3778049delinsTGTGCCTGTGGAATCACAGGGG , CM000678.2:g.3778028_3778049delinsTGTGCCTGTGGAATCACAGGGG GRCh38
NC_000016.9:g.3828029_3828050delinsTGTGCCTGTGGAATCACAGGGG , CM000678.1:g.3828029_3828050delinsTGTGCCTGTGGAATCACAGGGG GRCh37
NC_000016.8:g.3768030_3768051delinsTGTGCCTGTGGAATCACAGGGG NCBI36
NG_009873.1:g.107072_107093delinsCCCCTGTGATTCCACAGGCACA
NG_009873.2:g.107665_107686delinsCCCCTGTGATTCCACAGGCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA MANE Select ENSP00000262367.5:p.Pro692=
ENST00000262367.9:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA ENSP00000262367.5:p.Pro692=
ENST00000382070.7:c.1961_1982delinsCCCCTGTGATTCCACAGGCACA ENSP00000371502.3:p.Pro654=
ENST00000570939.2:c.680_701delinsCCCCTGTGATTCCACAGGCACA ENSP00000461002.2:p.Pro227=
ENST00000571826.5:c.124_145delinsCCCCTGTGATTCCACAGGCACA
ENST00000572134.1:c.388_409delinsCCCCTGTGATTCCACAGGCACA
ENST00000634839.1:n.237_258delinsCCCCTGTGATTCCACAGGCACA
NM_001079846.1:c.1961_1982delinsCCCCTGTGATTCCACAGGCACA NP_001073315.1:p.Pro654=
NM_004380.2:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA NP_004371.2:p.Pro692=
XM_005255124.3:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_005255181.1:p.Pro692=
XM_005255125.3:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_005255182.1:p.Pro692=
XM_006720848.2:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_006720911.1:p.Pro692=
XM_011522380.1:c.2021_2042delinsCCCCTGTGATTCCACAGGCACA XP_011520682.1:p.Pro674=
XM_011522381.1:c.1322_1343delinsCCCCTGTGATTCCACAGGCACA XP_011520683.1:p.Pro441=
XM_011522382.1:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_011520684.1:p.Pro692=
XM_005255124.4:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_005255181.1:p.Pro692=
XM_005255125.4:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_005255182.1:p.Pro692=
XM_006720848.3:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_006720911.1:p.Pro692=
XM_011522381.2:c.1322_1343delinsCCCCTGTGATTCCACAGGCACA XP_011520683.1:p.Pro441=
XM_011522382.3:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_011520684.1:p.Pro692=
XM_017022944.1:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA XP_016878433.1:p.Pro692=
NM_004380.3:c.2075_2096delinsCCCCTGTGATTCCACAGGCACA MANE Select NP_004371.2:p.Pro692=