Canonical Allele Identifier: CA2631429204

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3792096-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792096_3792097insTC , CM000678.2:g.3792096_3792097insTC	GRCh38
NC_000016.9:g.3842097_3842098insTC , CM000678.1:g.3842097_3842098insTC	GRCh37
NC_000016.8:g.3782098_3782099insTC	NCBI36
NG_009873.1:g.93024_93025insGA
NG_009873.2:g.93617_93618insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1217-3_1217-2insGA MANE Select	ENSP00000262367.5:n.1217-3_1217-2insGA
ENST00000262367.9:c.1217-3_1217-2insGA	ENSP00000262367.5:n.1217-3_1217-2insGA
ENST00000382070.7:c.1216+1289_1216+1290insGA	ENSP00000371502.3:n.1216+1289_1216+1290insGA
NM_001079846.1:c.1216+1289_1216+1290insGA	NP_001073315.1:n.1216+1289_1216+1290insGA
NM_004380.2:c.1217-3_1217-2insGA	NP_004371.2:n.1217-3_1217-2insGA
XM_005255124.3:c.1217-3_1217-2insGA	XP_005255181.1:n.1217-3_1217-2insGA
XM_005255125.3:c.1217-3_1217-2insGA	XP_005255182.1:n.1217-3_1217-2insGA
XM_006720848.2:c.1217-3_1217-2insGA	XP_006720911.1:n.1217-3_1217-2insGA
XM_011522380.1:c.1163-3_1163-2insGA	XP_011520682.1:n.1163-3_1163-2insGA
XM_011522381.1:c.464-3_464-2insGA	XP_011520683.1:n.464-3_464-2insGA
XM_011522382.1:c.1217-3_1217-2insGA	XP_011520684.1:n.1217-3_1217-2insGA
XM_005255124.4:c.1217-3_1217-2insGA	XP_005255181.1:n.1217-3_1217-2insGA
XM_005255125.4:c.1217-3_1217-2insGA	XP_005255182.1:n.1217-3_1217-2insGA
XM_006720848.3:c.1217-3_1217-2insGA	XP_006720911.1:n.1217-3_1217-2insGA
XM_011522381.2:c.464-3_464-2insGA	XP_011520683.1:n.464-3_464-2insGA
XM_011522382.3:c.1217-3_1217-2insGA	XP_011520684.1:n.1217-3_1217-2insGA
XM_017022944.1:c.1217-3_1217-2insGA	XP_016878433.1:n.1217-3_1217-2insGA
NM_004380.3:c.1217-3_1217-2insGA MANE Select	NP_004371.2:n.1217-3_1217-2insGA