Canonical Allele Identifier: CA2202953453

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791835_3791914delinsGCTGTACCTTGGGCTGCTGTCCGCCCTACCTCACCCTGCACTCCATGGCTCATAACCCCTGCCCACTCCCTACCTACTCT , CM000678.2:g.3791835_3791914delinsGCTGTACCTTGGGCTGCTGTCCGCCCTACCTCACCCTGCACTCCATGGCTCATAACCCCTGCCCACTCCCTACCTACTCT	GRCh38
NC_000016.9:g.3841836_3841915delinsGCTGTACCTTGGGCTGCTGTCCGCCCTACCTCACCCTGCACTCCATGGCTCATAACCCCTGCCCACTCCCTACCTACTCT , CM000678.1:g.3841836_3841915delinsGCTGTACCTTGGGCTGCTGTCCGCCCTACCTCACCCTGCACTCCATGGCTCATAACCCCTGCCCACTCCCTACCTACTCT	GRCh37
NC_000016.8:g.3781837_3781916delinsGCTGTACCTTGGGCTGCTGTCCGCCCTACCTCACCCTGCACTCCATGGCTCATAACCCCTGCCCACTCCCTACCTACTCT	NCBI36
NG_009873.1:g.93207_93286delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC
NG_009873.2:g.93800_93879delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC MANE Select	ENSP00000262367.5:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGG...
ENST00000262367.9:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	ENSP00000262367.5:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGG...
ENST00000382070.7:c.1216+1472_1216+1551delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	ENSP00000371502.3:n.1216+1472_1216+1551delinsAGAGTAGGTAGGGAGT...
NM_001079846.1:c.1216+1472_1216+1551delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	NP_001073315.1:n.1216+1472_1216+1551delinsAGAGTAGGTAGGGAGTGGG...
NM_004380.2:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	NP_004371.2:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGG...
XM_005255124.3:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_005255181.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_005255125.3:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_005255182.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_006720848.2:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_006720911.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_011522380.1:c.1276+67_1276+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_011520682.1:n.1276+67_1276+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_011522381.1:c.577+67_577+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_011520683.1:n.577+67_577+146delinsAGAGTAGGTAGGGAGTGGGCAGGG...
XM_011522382.1:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_011520684.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_005255124.4:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_005255181.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_005255125.4:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_005255182.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_006720848.3:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_006720911.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_011522381.2:c.577+67_577+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_011520683.1:n.577+67_577+146delinsAGAGTAGGTAGGGAGTGGGCAGGG...
XM_011522382.3:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_011520684.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
XM_017022944.1:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC	XP_016878433.1:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAG...
NM_004380.3:c.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGGTTATGAGCCATGGAGTGCAGGGTGAGGTAGGGCGGACAGCAGCCCAAGGTACAGC MANE Select	NP_004371.2:n.1330+67_1330+146delinsAGAGTAGGTAGGGAGTGGGCAGGGG...