Canonical Allele Identifier: CA2202953570

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791948_3791951delinsTCTC , CM000678.2:g.3791948_3791951delinsTCTC	GRCh38
NC_000016.9:g.3841949_3841952delinsTCTC , CM000678.1:g.3841949_3841952delinsTCTC	GRCh37
NC_000016.8:g.3781950_3781953delinsTCTC	NCBI36
NG_009873.1:g.93170_93173delinsGAGA
NG_009873.2:g.93763_93766delinsGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.1330+30_1330+33delinsGAGA MANE Select	ENSP00000262367.5:n.1330+30_1330+33delins...
ENST00000262367.9:c.1330+30_1330+33delinsGAGA	ENSP00000262367.5:n.1330+30_1330+33delins...
ENST00000382070.7:c.1216+1435_1216+1438delinsGAGA	ENSP00000371502.3:n.1216+1435_1216+1438de...
NM_001079846.1:c.1216+1435_1216+1438delinsGAGA	NP_001073315.1:n.1216+1435_1216+1438delin...
NM_004380.2:c.1330+30_1330+33delinsGAGA	NP_004371.2:n.1330+30_1330+33delinsGAGA
XM_005255124.3:c.1330+30_1330+33delinsGAGA	XP_005255181.1:n.1330+30_1330+33delinsGAG...
XM_005255125.3:c.1330+30_1330+33delinsGAGA	XP_005255182.1:n.1330+30_1330+33delinsGAG...
XM_006720848.2:c.1330+30_1330+33delinsGAGA	XP_006720911.1:n.1330+30_1330+33delinsGAG...
XM_011522380.1:c.1276+30_1276+33delinsGAGA	XP_011520682.1:n.1276+30_1276+33delinsGAG...
XM_011522381.1:c.577+30_577+33delinsGAGA	XP_011520683.1:n.577+30_577+33delinsGAGA
XM_011522382.1:c.1330+30_1330+33delinsGAGA	XP_011520684.1:n.1330+30_1330+33delinsGAG...
XM_005255124.4:c.1330+30_1330+33delinsGAGA	XP_005255181.1:n.1330+30_1330+33delinsGAG...
XM_005255125.4:c.1330+30_1330+33delinsGAGA	XP_005255182.1:n.1330+30_1330+33delinsGAG...
XM_006720848.3:c.1330+30_1330+33delinsGAGA	XP_006720911.1:n.1330+30_1330+33delinsGAG...
XM_011522381.2:c.577+30_577+33delinsGAGA	XP_011520683.1:n.577+30_577+33delinsGAGA
XM_011522382.3:c.1330+30_1330+33delinsGAGA	XP_011520684.1:n.1330+30_1330+33delinsGAG...
XM_017022944.1:c.1330+30_1330+33delinsGAGA	XP_016878433.1:n.1330+30_1330+33delinsGAG...
NM_004380.3:c.1330+30_1330+33delinsGAGA MANE Select	NP_004371.2:n.1330+30_1330+33delinsGAGA