Canonical Allele Identifier: CA2547707967

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777535_3777536insTAGTATGGATATGTTTATA , CM000678.2:g.3777535_3777536insTAGTATGGATATGTTTATA	GRCh38
NC_000016.9:g.3827536_3827537insTAGTATGGATATGTTTATA , CM000678.1:g.3827536_3827537insTAGTATGGATATGTTTATA	GRCh37
NC_000016.8:g.3767537_3767538insTAGTATGGATATGTTTATA	NCBI36
NG_009873.1:g.107585_107586insTATAAACATATCCATACTA
NG_009873.2:g.108178_108179insTATAAACATATCCATACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+77_2158+78insTATAAACATATCCATACTA MANE Select	ENSP00000262367.5:n.2158+77_2158+78insTATAAACATATCCATACTA
ENST00000262367.9:c.2158+77_2158+78insTATAAACATATCCATACTA	ENSP00000262367.5:n.2158+77_2158+78insTATAAACATATCCATACTA
ENST00000382070.7:c.2044+77_2044+78insTATAAACATATCCATACTA	ENSP00000371502.3:n.2044+77_2044+78insTATAAACATATCCATACTA
ENST00000570939.2:c.763+77_763+78insTATAAACATATCCATACTA	ENSP00000461002.2:n.763+77_763+78insTATAAACATATCCATACTA
ENST00000571826.5:c.207+77_207+78insTATAAACATATCCATACTA
ENST00000572134.1:c.426+475_426+476insTATAAACATATCCATACTA
NM_001079846.1:c.2044+77_2044+78insTATAAACATATCCATACTA	NP_001073315.1:n.2044+77_2044+78insTATAAACATATCCATACTA
NM_004380.2:c.2158+77_2158+78insTATAAACATATCCATACTA	NP_004371.2:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_005255124.3:c.2113+475_2113+476insTATAAACATATCCATACTA	XP_005255181.1:n.2113+475_2113+476insTATAAACATATCCATACTA
XM_005255125.3:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_005255182.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_006720848.2:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_006720911.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_011522380.1:c.2104+77_2104+78insTATAAACATATCCATACTA	XP_011520682.1:n.2104+77_2104+78insTATAAACATATCCATACTA
XM_011522381.1:c.1405+77_1405+78insTATAAACATATCCATACTA	XP_011520683.1:n.1405+77_1405+78insTATAAACATATCCATACTA
XM_011522382.1:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_011520684.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_005255124.4:c.2113+475_2113+476insTATAAACATATCCATACTA	XP_005255181.1:n.2113+475_2113+476insTATAAACATATCCATACTA
XM_005255125.4:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_005255182.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_006720848.3:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_006720911.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_011522381.2:c.1405+77_1405+78insTATAAACATATCCATACTA	XP_011520683.1:n.1405+77_1405+78insTATAAACATATCCATACTA
XM_011522382.3:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_011520684.1:n.2158+77_2158+78insTATAAACATATCCATACTA
XM_017022944.1:c.2158+77_2158+78insTATAAACATATCCATACTA	XP_016878433.1:n.2158+77_2158+78insTATAAACATATCCATACTA
NM_004380.3:c.2158+77_2158+78insTATAAACATATCCATACTA MANE Select	NP_004371.2:n.2158+77_2158+78insTATAAACATATCCATACTA