Canonical Allele Identifier: CA2569990280
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3850270_3850271insAGACA , CM000678.2:g.3850270_3850271insAGACA GRCh38
NC_000016.9:g.3900271_3900272insAGACA , CM000678.1:g.3900271_3900272insAGACA GRCh37
NC_000016.8:g.3840272_3840273insAGACA NCBI36
NG_009873.1:g.34850_34851insTGTCT
NG_009873.2:g.35443_35444insTGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.798+26_798+27insTGTCT MANE Select ENSP00000262367.5:n.798+26_798+27insTGTCT
ENST00000636895.1:n.25+26_25+27insTGTCT
ENST00000262367.9:c.798+26_798+27insTGTCT ENSP00000262367.5:n.798+26_798+27insTGTCT
ENST00000382070.7:c.798+26_798+27insTGTCT ENSP00000371502.3:n.798+26_798+27insTGTCT
NM_001079846.1:c.798+26_798+27insTGTCT NP_001073315.1:n.798+26_798+27insTGTCT
NM_004380.2:c.798+26_798+27insTGTCT NP_004371.2:n.798+26_798+27insTGTCT
XM_005255124.3:c.798+26_798+27insTGTCT XP_005255181.1:n.798+26_798+27insTGTCT
XM_005255125.3:c.798+26_798+27insTGTCT XP_005255182.1:n.798+26_798+27insTGTCT
XM_006720848.2:c.798+26_798+27insTGTCT XP_006720911.1:n.798+26_798+27insTGTCT
XM_011522380.1:c.744+26_744+27insTGTCT XP_011520682.1:n.744+26_744+27insTGTCT
XM_011522382.1:c.798+26_798+27insTGTCT XP_011520684.1:n.798+26_798+27insTGTCT
XM_005255124.4:c.798+26_798+27insTGTCT XP_005255181.1:n.798+26_798+27insTGTCT
XM_005255125.4:c.798+26_798+27insTGTCT XP_005255182.1:n.798+26_798+27insTGTCT
XM_006720848.3:c.798+26_798+27insTGTCT XP_006720911.1:n.798+26_798+27insTGTCT
XM_011522382.3:c.798+26_798+27insTGTCT XP_011520684.1:n.798+26_798+27insTGTCT
XM_017022944.1:c.798+26_798+27insTGTCT XP_016878433.1:n.798+26_798+27insTGTCT
NM_004380.3:c.798+26_798+27insTGTCT MANE Select NP_004371.2:n.798+26_798+27insTGTCT