Canonical Allele Identifier: CA2202953585
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3791963_3791964delinsGC , CM000678.2:g.3791963_3791964delinsGC GRCh38
NC_000016.9:g.3841964_3841965delinsGC , CM000678.1:g.3841964_3841965delinsGC GRCh37
NC_000016.8:g.3781965_3781966delinsGC NCBI36
NG_009873.1:g.93157_93158delinsGC
NG_009873.2:g.93750_93751delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.1330+17_1330+18delinsGC MANE Select ENSP00000262367.5:n.1330+17_1330+18delinsGC
ENST00000262367.9:c.1330+17_1330+18delinsGC ENSP00000262367.5:n.1330+17_1330+18delinsGC
ENST00000382070.7:c.1216+1422_1216+1423delinsGC ENSP00000371502.3:n.1216+1422_1216+1423delinsGC
NM_001079846.1:c.1216+1422_1216+1423delinsGC NP_001073315.1:n.1216+1422_1216+1423delinsGC
NM_004380.2:c.1330+17_1330+18delinsGC NP_004371.2:n.1330+17_1330+18delinsGC
XM_005255124.3:c.1330+17_1330+18delinsGC XP_005255181.1:n.1330+17_1330+18delinsGC
XM_005255125.3:c.1330+17_1330+18delinsGC XP_005255182.1:n.1330+17_1330+18delinsGC
XM_006720848.2:c.1330+17_1330+18delinsGC XP_006720911.1:n.1330+17_1330+18delinsGC
XM_011522380.1:c.1276+17_1276+18delinsGC XP_011520682.1:n.1276+17_1276+18delinsGC
XM_011522381.1:c.577+17_577+18delinsGC XP_011520683.1:n.577+17_577+18delinsGC
XM_011522382.1:c.1330+17_1330+18delinsGC XP_011520684.1:n.1330+17_1330+18delinsGC
XM_005255124.4:c.1330+17_1330+18delinsGC XP_005255181.1:n.1330+17_1330+18delinsGC
XM_005255125.4:c.1330+17_1330+18delinsGC XP_005255182.1:n.1330+17_1330+18delinsGC
XM_006720848.3:c.1330+17_1330+18delinsGC XP_006720911.1:n.1330+17_1330+18delinsGC
XM_011522381.2:c.577+17_577+18delinsGC XP_011520683.1:n.577+17_577+18delinsGC
XM_011522382.3:c.1330+17_1330+18delinsGC XP_011520684.1:n.1330+17_1330+18delinsGC
XM_017022944.1:c.1330+17_1330+18delinsGC XP_016878433.1:n.1330+17_1330+18delinsGC
NM_004380.3:c.1330+17_1330+18delinsGC MANE Select NP_004371.2:n.1330+17_1330+18delinsGC