Canonical Allele Identifier: CA2202936082

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736304_3736343delinsGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCA , CM000678.2:g.3736304_3736343delinsGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCA	GRCh38
NC_000016.9:g.3786305_3786344delinsGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCA , CM000678.1:g.3786305_3786344delinsGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCA	GRCh37
NC_000016.8:g.3726306_3726345delinsGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCA	NCBI36
NG_009873.1:g.148778_148817delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC
NG_009873.2:g.149371_149410delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC MANE Select	ENSP00000262367.5:n.4561-140_4561-101delinsTGCACTGTGGTGGGGGGG...
ENST00000262367.9:c.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	ENSP00000262367.5:n.4561-140_4561-101delinsTGCACTGTGGTGGGGGGG...
ENST00000382070.7:c.4447-140_4447-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	ENSP00000371502.3:n.4447-140_4447-101delinsTGCACTGTGGTGGGGGGG...
ENST00000570939.2:c.3196-140_3196-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	ENSP00000461002.2:n.3196-140_3196-101delinsTGCACTGTGGTGGGGGGG...
ENST00000571763.5:n.351-140_351-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC
ENST00000576720.1:n.3384-140_3384-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC
NM_001079846.1:c.4447-140_4447-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	NP_001073315.1:n.4447-140_4447-101delinsTGCACTGTGGTGGGGGGGCAC...
NM_004380.2:c.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	NP_004371.2:n.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACA...
XM_005255124.3:c.4516-140_4516-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_005255181.1:n.4516-140_4516-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_005255125.3:c.4144-140_4144-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_005255182.1:n.4144-140_4144-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_006720848.2:c.4300-140_4300-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_006720911.1:n.4300-140_4300-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_011522380.1:c.4507-140_4507-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_011520682.1:n.4507-140_4507-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_011522381.1:c.3808-140_3808-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_011520683.1:n.3808-140_3808-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_005255124.4:c.4516-140_4516-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_005255181.1:n.4516-140_4516-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_005255125.4:c.4144-140_4144-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_005255182.1:n.4144-140_4144-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_006720848.3:c.4300-140_4300-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_006720911.1:n.4300-140_4300-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_011522381.2:c.3808-140_3808-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_011520683.1:n.3808-140_3808-101delinsTGCACTGTGGTGGGGGGGCAC...
XM_017022944.1:c.4555-140_4555-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC	XP_016878433.1:n.4555-140_4555-101delinsTGCACTGTGGTGGGGGGGCAC...
NM_004380.3:c.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACATGCATGGGACTCTGCC MANE Select	NP_004371.2:n.4561-140_4561-101delinsTGCACTGTGGTGGGGGGGCACACA...